Property Summary

NCBI Gene PubMed Count 445
PubMed Score 5822.82
PubTator Score 2584.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Amyloidosis 68
Disease Target Count Z-score Confidence
Orofacial cleft 38 0.0 1.0
Disease Target Count Z-score Confidence
Transthyretin amyloidosis 1 0.0 5.0
Disease Target Count Z-score Confidence
Neuropathy 210 5.088 2.5

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.300 7.7e-04
osteosarcoma 2.060 1.3e-06
intraductal papillary-mucinous adenoma (... -2.300 1.3e-02
intraductal papillary-mucinous carcinoma... -2.400 1.8e-02
diabetes mellitus 1.200 1.5e-03
group 3 medulloblastoma 2.600 3.5e-02
lung carcinoma 2.500 2.6e-09

Synonym

Accession P02766 Q549C7 Q6IB96 Q9UBZ6 Q9UCM9
Symbols CTS
CTS1
PALB
TBPA
HEL111
HsT2651

Gene

TTR

PANTHER Protein Class (1)

PDB

1BM7   1BMZ   1BZ8   1BZD   1BZE   1DVQ   1DVS   1DVT   1DVU   1DVX   1DVY   1DVZ   1E3F   1E4H   1E5A   1ETA   1ETB   1F41   1F64   1F86   1FH2   1FHN   1G1O   1GKO   1ICT   1III   1IIK   1IJN   1QAB   1QWH   1RLB   1SOK   1SOQ   1THA   1THC   1TLM   1TSH   1TT6   1TTA   1TTB   1TTC   1TTR   1TYR   1TZ8   1U21   1X7S   1X7T   1Y1D   1Z7J   1ZCR   1ZD6   2B14   2B15   2B16   2B77   2B9A   2F7I   2F8I   2FBR   2FLM   2G3X   2G3Z   2G4E   2G4G   2G5U   2G9K   2GAB   2H4E   2M5N   2NOY   2PAB   2QEL   2QGB   2QGC   2QGD   2QGE   2ROX   2ROY   2TRH   2TRY   2WQA   3A4D   3A4E   3A4F   3B56   3BSZ   3BT0   3CBR   3CFM   3CFN   3CFQ   3CFT   3CN0   3CN1   3CN2   3CN3   3CN4   3CXF   3D2T   3D7P   3DGD   3DID   3DJR   3DJS   3DJT   3DJZ   3DK0   3DK2   3DO4   3ESN   3ESO   3ESP   3FC8   3FCB   3GLZ   3GPS   3GRB   3GRG   3GS0   3GS4   3GS7   3HJ0   3I9A   3I9I   3I9P   3IMR   3IMS   3IMT   3IMU   3IMV   3IMW   3IPB   3IPE   3KGS   3KGT   3KGU   3M1O   3NEE   3NEO   3NES   3NEX   3NG5   3OZK   3OZL   3P3R   3P3S   3P3T   3P3U   3SSG   3TCT   3TFB   3U2I   3U2J   3W3B   4ABQ   4ABU   4ABV   4ABW   4AC2   4AC4   4ACT   4ANK   4D7B   4DER   4DES   4DET   4DEU   4DEW   4FI6   4FI7   4FI8   4HIQ   4HIS   4HJS   4HJT   4HJU   4I85   4I87   4I89   4IIZ   4IK6   4IK7   4IKI   4IKJ   4IKK   4IKL   4KY2   4L1S   4L1T   4MAS   4MRB   4MRC   4N85   4N86   4N87   4PM1   4PME   4PMF   4PVL   4PVM   4PVN   4PWE   4PWF   4PWG   4PWH   4PWI   4PWJ   4PWK   4QRF   4QXV   4QYA   4TKW   4TL4   4TL5   4TLK   4TLS   4TLT   4TLU   4TM9   4TNE   4TNF   4TNG   4TQ8   4TQH   4TQI   4TQP   4WNJ   4WNS   4WO0   4Y9B   4Y9C   4Y9E   4Y9F   4Y9G   4YDM   4YDN   5A6I   5AKS   5AKT   5AKV   5AL0   5AL8   5AYT   5BOJ   5CLX   5CLY   5CLZ   5CM1   5CN3   5CNH   5CR1   5DEJ   5DWP   5E23   5E4A   5E4O   5EN3   5EZP   5HJG   5IHH   5K1J   5K1N   5TTR  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Protein-protein Interaction (5)

MLP Assay (6)

AID Type Active / Inconclusive / Inactive Description
1117267 screening 1155 / 0 / 90788 Luminescence-based cell-based primary high throughput screening assay to identify activators of Transthyretin (TTR) transcription
1117268 summary 0 / 0 / 0 Summary of probe development efforts to identify activators of Transthyretin (TTR) transcription
1117279 screening 39 / 0 / 1044 Counterscreen for activators of Transthyretin (TTR) transcription: Luminescence-based cell-based high throughput assay to identify inhibitors of Transthyretin (TTR) transcription in HuH7 hepatoma cells
1117280 screening 8 / 0 / 1075 Luminescence-based cell-based high throughput confirmation assay to identify activators of Transthyretin (TTR) transcription
1117296 confirmatory 0 / 0 / 55 Counterscreen for activators of Transthyretin (TTR) transcription: Luminescence-based cell-based high throughput dose response assay to identify inhibitors of Transthyretin (TTR) transcription in HuH7 hepatoma cells
1117297 confirmatory 0 / 0 / 55 Luminescence-based cell-based high throughput dose response assay to identify activators of Transthyretin (TTR) transcription

Gene RIF (305)

PMID Text
26998642 Data suggest that well-structured AB loop regions of TTR in native/homotetrameric/stable state become dissociated/disordered/unfolded at low pH; during refolding, structural perturbations in AB loop appear and facilitate misfolding and amyloid formation.
26656838 Large differences in survival were observed in hereditary transthyretin amyloidosis patients with TTR mutations other than Val30Met.
26587769 illustrates the diversity of symptoms encountered in homozygote ATTR V30M patients
26527142 Eight water molecules stabilize the dimeric structure through an extensive hydrogen-bonding network.
26459562 beta-strands F and H as necessary for TTR aggregation.
26444765 Study elucidated alterations in TTR, APP and the global gene expression profile in the frontal cortex between idiopathic normal pressure hydrocephalus patients and nondemented control brain
26428663 Caucasian patients with the Val142Ile pathogenic variant have phenotypic manifestations similar to African-Americans
26369527 Ile107Val and LateMet30 TTR mutations are associated with the most debilitating and severe familial amyloid polyneuropathy, with rapid onset of tetraparesis and shorter median survival.
26249340 The structures of TTR in complex with three natural polyphenols (pterostilbene, quercetin and apigenin) have been determined.
26003908 In critically ill trauma patients, low serum TTR level is associated with poorer clinical outcomes.
25940564 TTR, which is located predominantly at the cartilage surfaces, was detected in all osteoarthritis cartilage samples and in a majority of aged normal cartilage samples, but not in normal cartilage samples from young donors.
25910794 Quantitative analysis of post-translational modifications in human serum transthyretin associated with familial amyloidotic polyneuropathy by targeted LC-MS and intact protein MS.
25872787 Tafamidis treatment effectively achieved and maintained TTR stabilization in transthyretin amyloid cardiomyopathy.
25857202 study reports a novel TTR variant(TTR Asp38Tyr mutation) in 2 Brazilian sisters who developed a late onset neuropathy; new mutation calls attention to the diversity found in TTR familial amyloid polyneuropathy
25743445 Open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis shows no change in cardiac findings.
25737004 Given the high conservation of TTR structure, function and tissue specificity and timing of gene expression, this implies that TTR has a fundamental role, during development and in the adult.
25721874 the Swedish TTRHis88Arg patients all have a common Swedish founder. Cardiomyopathy with heart failure, as well as carpal tunnel syndrome and spinal stenosis were early signs of disease; but peripheral neuropathy was present in one patient before symptoms of cardiomyopathy so the phenotypical presentation of this mutation is variable.
25644864 Study investigated the phenotypic and genotypic spectra of hereditary ATTR in Korea; Of 12 genetic tests performed, seven were positive for TTR mutations. D58A (c.173A>C) was the most common mutation in this study (57%, 4/7).
25551524 We did not detect a significant difference in mortality between V122I TTR allele carriers and noncarriers, a finding that contrasts with prior observations; however, the risk of heart failure was increased among carriers.
25550818 The results suggest that amyloid substance was present in the blood of familial amyloidotic polyneuropathy patients with the ATTR Val30Met mutation.
25509863 Transthyretin, one of the major plasma proteins, has a number of posttranslational modifications and mutations, some of which are associated with the development of severe diseases, for instance, familial amyloid neuropathy and Alzheimer's disease
25478940 Using circular dichroism spectroscopy, the study determined that CLU preferentially stabilizes monomeric TTR and generates increasingly stable conformations under acid stress.
25395306 The interaction of the amyloidogenic V122I TTR with human cardiomyocytes is distinct from that of a non-amyloidogenic TTR variant and is characterized by its retention at the cell membrane, where it initiates the cytotoxic cascade.
25372987 The conserved water mediated recognition dynamics of the different functional sites may provide some rational clues towards the understanding of the activity and mechanism of hTTR.
25372741 The review show the relevance of TTR in normal state and in disease especially in several neuropathologies where its level varies. Also, its neuroprotective role in schemia and Alzheimer's disease was also dicussed.
25367359 Genetic variation of the transthyretin gene is associated with wild-type transthyretin amyloidosis.
25245430 Data suggest that TTR and TTR mutants (seen in subjects with senile systemic amyloidosis) have similar amyloidogenic potential and similar thermodynamic/kinetic stabilities; this study emphasizes protein stability under physiological conditions.
25091367 findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of Liver Ttransplantation
25086037 Lys-35 is as a gatekeeper residue in transthyretin preventing the protein from aggregation.
25060417 Diflunisal might be effective especially for autonomic dysfunction in late-onset FAP with a TTR Val30Met mutation.
25018619 The EPO concentration in the aqueous humor of familial amyloidotic polyneuropathy (FAP) and non-FAP patients, with and without glaucoma, was evaluated.
24945718 once monomers of transthyretin are released from the tetramer, equilibrium is established between a set of conformational states possessing different degrees of disorder
24849358 The current data suggest one possible mechanism that can account for the increased production of TTR as a potential protective molecule during the course of alzheimer disease.
24781992 MPO/H2O2 system using two-dimensional gel electrophoresis and TTR Western blotting. This observation revealed that the TTR amyloid deposits and serum TTR were oxidized by the MPO/H2O2/NO(-) system.
24779883 The link between TTR secondary structures and mutation impact, and the relationship between mutations and amyloidogenic propensity have been presented.
24690176 we have identified a potential monitoring biomarker TTR for Kawasaki disease.
24667918 Microarray analysis indicates HIV-1 Tat-induced downregulation of transthyretin (TTR) in primary human brain microvascular endothelial cells
24661308 A subunit exchange method quantifies the kinetic stability of endogenous transthyretin in plasma; TTR kinetic stability correlates with the tafamidis plasma concentration.
24648510 The studies reveal a novel antibody property, the innate ability of IgMs to selectively degrade and dissolve toxic misTTR species as a first line immune function.
24563469 Immunoglobulin amyloid light-chain (AL)-related cardiac amyloidosis (CA) has a worse prognosis than either wild-type (ATTRwt) or mutant (ATTRm) transthyretin (TTR) CA.
24555660 TTR V30M carrier frequency in a northern Swedish population.
24528201 We now show that the amyloid beta-peptide clearance protein transthyretin is also epigenetically up-regulated by amyloid precursor protein intracellular domain
24480837 TTR Ile107Met mutation is associated with vitreous amyloidosis and familial amyloid polyneuropathy.
24474780 Binding of the natural ligands thyroxine or retinol-binding protein (RBP) by Ser52Pro variant TTR stabilizes the native tetrameric assembly, but neither protected the variant from proteolysis.
24455802 Val30Met mutation was found in a Belgian family with hereditary amyloidosis.
24390749 Amyloid deposition in synovial membranes of OA patients was found to be ATTR and AL-kappa.
24184229 This study is the largest homozygous TTR gene V122I polymorphism cohort reported and demonstrates association with earlier age at onset than for heterozygotes.
24182678 Cardiac amyloid formation of wild-type transthyretin is affected by age and sex differences in familial amyloidotic polyneuropathy (FAP).
24164623 These findings strongly support further investigations on the diagnostic utility of TTR aggregate specific monoclonal antibodies for patients with TTR amyloidoses.
24113303 Vitreous opacity is very common in patients with the TTR Gly83Arg mutation; other clinical characteristics associated with the mutation include polyneuropathy and cardiac amyloidosis.
24070596 Case Report: characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock.
24053266 The natural history of Ser50Arg, Ser52Pro and Gly47Ala TTR mutations is similar to the Val30Met mutation described in familial amyloidosis polyneuropathy in endemic areas.
24035612 Native transthyretin inhibits all preeclampsia-like features in the humanized mouse model.
24030829 Transthyretin proteins regulate angiogenesis by conferring different molecular identities to endothelial cells.
23901247 Mutation p.G83R in the TTR protein is associated with hereditary vitreous amyloidosis in Chinese families.
23860318 findings further suggest a mechanism underlying the regulation of TTR expression through the identification of a novel ERE in the TTR gene, which functions as an E2-dependent enhancer-like element
23734638 Synovial deposition of wild-type non-mutated transthyretin-derived amyloid was found in knee joint osteoarthritis patients.
23716704 Data indicate that AG10 stabilizes V122I- and wildtype-transthyretin (TTR) equally well.
23713495 All familial amyloidosis non-V30M transthyretin-amyloid fibril protein patients had a fibril composition with ATTR fragments, except for two ATTRY114C patients.
23623341 Measurement of prealbumin levels allows a more accurate prediction of mortality in elderly chronic heart failure patients.
23580146 The genetic stabilization of transthyretin is associated with decreased risk of cerebrovascular disease.
23579071 Decreased secretion with intracellular aggregation of TTR L12P in hepatoma cells relative to WT and V30M variant.
23546595 Serum levels of transthyretin are elevated in patients with pancreatic ductal adenocarcinoma.
23523753 the V30A TTR variant was substantially less stable than the WT TTR, even worse than the V30M variant under some experimental conditions, accompanied by significantly increased amyloid fibril formation and cytotoxicity against neuroblastoma cells.
23465306 TTR levels in sera of patients with early RA were significantly increased. Four modified TTR were identified by MALDI-TOF-MS, and the proportion of modified TTR varied with different disease stages.
23438977 A Chinese family with TTR Ala36Pro associated familial amyloidosis is characterized by early ocular involvement.
23414091 Carbonylated wild type and carbonylated V122I TTR have a stronger propensity to form aggregates and fibrils than wild type and V122I TTR, respectively, at physiologically attainable pH values.
23387326 Presence of N-glycosylated transthyretin in plasma of V30M carriers is associated with familial amyloidotic polyneuropathy.
23385359 9 different proteins (haptoglobin, transthyretin, apolipoprotein A-1, serum amyloid P component, apolipoprotein E, complement factor H, fibrinogen gamma, thrombin, complement C3) were identified as a potential diagnostic pattern of Parkinson's disease.
23319365 S-sulfhydration and S-sulfonation of cysteine at position ten in the cerebral TTR correlate with an anomalous TTR protein folding as well as with disease duration in multiple sclerosis.
23306657 Early neuropathic involvement in TTR-mutation carriers can be detected or confirmed by neurophysiological tests specifically assessing small nerve fibres.
23279339 It is reasonable to consider Southern Italy as an endemic focus of familial amyloidotic polyneuropathy
23244293 Transthyretin amyloid deposits in the carpal tunnel ligament is commonly of wildtype origin.
23240369 TTR-associated FAP is a progressive and fatal disease that exists in the Israeli population and is unproportionally common among Yemenite Jews.
23225017 FAP is an inherited severe systemic amyloidosis caused by mutated TTR, and characterized by amyloid deposition mainly in the peripheral nervous system and the heart.
23225009 Experimental inhibition of fibrillogenesis and neurotoxicity by amyloid-beta (Abeta) and other disease-related peptides/proteins by plant extracts and herbal compounds.
23225005 Mechanisms of transthyretin aggregation and toxicity.
23185504 The SNP found in the 3' UTR of the TTR gene has no effect on degrading the variant allele's expression and thus has no impact on the diminished penetrance of the trait in the Swedish population
23133543 analysis of serum and cerebrospinal fluid levels of transthyretin in Lewy body disorders with and without dementia
23129325 The plasma TTR levels appear to be an important determinant of plasma RBP4 levels in type 1 and type 2 diabetes mellitus.
23079095 Lower prealbumin blood levels were predictive of in-hospital mortality in heart failure patients.
22984597 Data indicate that annular oligomers are key dynamic intermediates not only in the assembly but also in the disassembly of transthyretin (TTR) protofibrils.
22975527 Misfolded transthyretin in macular detachment and macular hole patients' vitreous completely or partially lost natural biofunctions.
22968245 Serum transthyretin was not affected by short-term perioperative high-energy intake.
22949539 Transthyretin cardiac amyloidosis is an underappreciated contributor to heart failure in elderly patients.
22948197 Low serum prealbumin level in the perioperative period is associated with a poorer prognosis in non-small-cell lung cancer patients.
22928869 Familial amyloidosis with polyneuropathy is associated with TTR Ser50Arg mutation.
22889670 TTR is elevated in two spots of the 2D-gel electrophoresis analysis from the Parkinson's cerebrospinal fluid samples relative to the normal control pool.
22847813 transthyretin is dysregulated in cases of intrauterine growth restriction and severe early onset preeclampsia; interestingly, TTR expression is not affected in cases with HELLP syndrome that reveal the same staining intensities as age-matched controls
22842046 Crystallographic analysis of ligand binding to the wild-type and V30M mutated human transthyretin.
22826435 TTR blocks the ability of holo-retinol-binding protein to associate with STRA6 and thereby effectively suppresses both STRA6-mediated retinol uptake and STRA6-initiated cell signaling.
22795285 Electrocardiographic voltages meet the criteria for LVH in one quarter of patients with ATTR V122I cardiac amyloidosis.
22784244 thsi study showed that TTR Val30Ala FAP in China seems unrelated to mitochondrial haplogroup.
22698061 this study prompts TTR as an early plasma biomarker in Alzheimer disease
22670059 Strong binding of beta-amyloid peptide to TIAALLSPYSYS (residues 106-117) was detected, corresponding to strand G on the inner beta-sheet of TTR.
22607976 Data show that prolonged transthyretin (TTR) unfolding induces externalization of cryptic N-glycosylation site and triggers STT3B-dependent posttranslational N-glycosylation.
22592564 TTR mutations should be considered when screening patients presenting with progressive axonal polyneuropathy negative for amyloid deposition.
22579241 Discusses TTR gene mutations in amyloidosis and if amyloidosis has a role in the aging process. Explores if treating amyloidosis increases human lifespan and increases quality of life in the oldest old.
22439750 The neutron structure revealed that the hydrogen-bond network involving His88 is important for the stabilization of the dimer-dimer and monomer-monomer interfaces.
22412233 Case Report: woman who was diagnosed with hereditary transthyretin cardiac amyloidosis by means of immunofluorescence and genetic analysis.
22362898 systemic (cardiac) TTR deposition may be the direct result of the diminution in the distant chaperoning capacity of the liver related to age or long-standing exposure to misfolded TTR, or both, in transgenic mice expressing human TTR.
22311483 A heterozygous mutation G to C at codon 103 in exon 3 of TTR gene (Gly103Arg) was detected in all 4 members of the family but not in the unrelated controls.
22301727 Hereditary cardiac amyloidosis with transthyretin mutations
22264585 Data support hypothesis that placental TTR secreted into maternal placental circulation can be taken up by trophoblasts and translocated to fetal circulation, forming a TTR shuttle system.
22248451 Neutron diffraction studies reveal the molecular stability of transthyretin relates to the hydrogen-bond network, the pH sensitivity and the weak hydrogen bonds.
22228785 the chronological sequence of other clinical landmarks tended to be uniform, occurring within a relatively short time span in transthyretin Val30Met familial amyloid polyneuropathy
22187309 a TTR Gly-54 point mutation in the 2nd exon is a novel mutation in vitreous amyloidosis in Chinese
22169613 There is a connection between elevated concentrations of both complement C4b and TTR and the pathogenesis of proliferative vitreoretinopathy.
22120741 TTR L55P-Zn(2+) structure offers the first molecular insights into the role of Zn(2+) as a mediator of cross-beta-type structure in TTR amyloidosis
22102249 results demonstrate the feasibility of a full crystallographic analysis of transthyretin to a resolution of 2.0 A using Laue diffraction
22091638 While X-ray structure of A25T-TTR is indistinguishable from that of wild-type TTR, A25T-TTR has low stability that may be involved in amyloidogenesis.
22080762 The V30M to wild type transthyretin (TTR) ratio in plasma is the same for all amyloid TTR patients studied, showing no variation with disease clinical progression
22045754 Data suggest that TTR expression and uptake are increased in placental trophoblasts by relative cell hypoxia (as a model for the relative hypoxia observed in first trimester of pregnancy); oxygen appears to be regulator of trophoblast TTR expression.
22027013 Te results of this study suggested taht genetic variations in MMEL1, ECE1, ECE2, AGER, PLG, PLAT, NR1H3, MMP3, LRP1, TTR, NR1H2, and MMP9 genes do not play major role among the Finnish AD patient cohort.
22002789 This study showed that signi fi cantly lower level of plasmaTTR were found in Alzheimer's disease subjects compared to non-demented controls and within AD subjects
21945954 Strong, false-positive immunostaining for transthyretin in cardiac amyloid is a potential pitfall, augmented by the frequent lack of staining for immunoglobulin light chains.
21945519 TTR production and secretion by the placenta may facilitate transplacental delivery of thyroid hormone to the fetus.
21880910 This study demonistrated that increased TTR production coupled with interaction between TTR and Abeta and/or its related peptides may play a role in natural resistance to human AD.
21843040 TTR Lys35Thr and Leu55Arg mutations are associated with vitreous amyloidosis.
21841252 Reduced levels of brain testosterone and 17beta-estradiol in female mice with TTR genetic reduction may underlie their increased Alzheimer's disease-like neuropathology.
21821015 results suggested that macular detachment (MD) and macular hole (MH) patients had higher vitreous TTR concentrations; TTR in MD vitreous had an abnormally stable tetrameric structure, possibly due to misfolding
21777382 investigation of determinants of binding affinity between transthyretin and retinol-binding protein: importance of N-terminal sequence of transthyretin; length and hydrophobicity of N-terminal sequence are important determinants of binding affinity
21739396 This study indicated that the mutation of transthyretin at Ala97Ser was a new mutation only reported in ethnic Taiwanese.
21733562 wild-type transthyretin deposition is a common cause of carpal tunnel syndrome in elderly men.
21714897 Higher level of the ratio of C-reactive protein to prealbumin is associated with mortality of acute kidney injury patients independent of the severity of illness.
21600538 Positive results for the amyloidogenic TTR V122I allele support the diagnosis and define the origin of the disease, which can be confirmed by endomyocardial biopsy.
21540676 Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis
21537325 Albumin may have an inhibitory role in the TTR amyloid-formation process.
21521316 Data show that leptin is better than any other biological parameter for monitoring the efficacy of renutrition, including albumin, transthyretin, leptin, IGFBP-1, IGFBP-3 and IGF-1.
21461579 This study allowed for the detection of protein interaction partners, which, in the case of retinol binding protein 4 and retinoid X receptor, indicated a connection between the common tumor marker TTR and tumor progression in cutaneous T-cell lymphoma.
21439703 the most common variant of cardiac amyloidosis is caused by mutations in the transthyretin gene
21434877 Guillain-Barre syndrome is associated with low CSF index levels of prealbumin.
21422279 Heparan sulfate/heparin promotes transthyretin fibrillization through selective binding to a basic motif in the protein.
21420946 Serum TTR may be a biomarker for high myopia patients with ocular pathologies.
21406045 Data show that transthyretin (TTR) D99N is predicted to be a non-pathogenic benign mutation with wildtype properties.
21397913 These results indicate that the distribution of amyloid deposition, is a characteristic feature and reflects the severity of familial amyloidotic polyneuropathy with transthyretin point mutation Val30Ala.
21358362 Recurrence of amyloid deposition only occurred in nonextensive vitrectomized eyes and represents a false recurrence associated with incomplete vitrectomy.
21335655 Transthyretin is not only involved in Alzheimer disease (AD) pathological processes but is suggested as a possible peripheral biomarker for AD diagnosis at serum level.
21280184 The development of arrhythmia is unrelated to gender/age at disease onset, and the risk does not appear to decrease with time after liver transplantation in familial amyloidotic polyneuropathy (amyloidogenic transthyretin Val30Met variant).
21208750 No significant associations were found between SNPs and regional grey matter volume when testing across the combined sample population of patients with major depressive disorder and controls.
21191093 In cardiac amyloidosis secondary to a V122I mutation and wild-type transthyretin, pressure-volume analysis reveals alterations associated with reductions in the ability of the ventricle to perform work and with reduced survival in these subjects.
21179887 Diagnostic and prognosis of familial amyloidotic polyneuropathy is crucial at early stages of the disease and after liver transplantation. A suitable non-invasive method was developed for monitoring the most important FAP biomarker in human saliva.
21179560 uptake of TTR from the circulation and its subsequent segregation into cytoplasmic quasi-crystalline arrays of nanospherules is part of a mechanism that neutralizes the toxic effect of TTR
21174946 analysis of mutated Y116S transthyretin and how the unfolding of the mutant structure may cause instability in the protein and thus induce amyloidgenesis
21135536 we identify the clinical characteristics of a Chinese family affected by transthyretin-related hereditary amyloidosis with TTR Tyr114Cys mutation.
21104416 transthyretin was expressed in the outer basal and suprabasal keratinocytes of anagen VI hair follicles
21077797 Swedish FAP ATTR Val30Met patients appeared to develop vitreous opacity later and more frequently compared with Japanese patients.
21056899 This is the first report showing the relationship between wild-type transthyretin deposition and aging in familial amyloid polyneuropathy patients.
20964562 The blood levels of serum amyloid A protein and transthyretin were found to be significantly increased in lung cancer patients.
20949480 transthyretin was identified by a proteomic method as an overabundant protein in pancreatic juice in patients with pancreatic carcinoma
20840742 presence of a 3'UTR polymorphism on the V30M haplotype in Swedish carriers, which can serve as a miRNA binding site potentially leading to down-regulated expression from the mutated TTR allele.
20840742 Observational study of gene-disease association. (HuGE Navigator)
20735474 The site-directed mutagenesis of HNF-4 binding sites in the transthyretin proximal promoter dramatically decreases transthyretin gene expression.
20697105 In a group of patients with familial amyloid neuropathy, skin denervation is associated with a missense mutation in amyloidogenic transthyretin (Ala97Ser).
20697105 Observational study of gene-disease association. (HuGE Navigator)
20660862 Survival after liver transplantation for TTR amyloidosis may be associated with progression of neuropathy due to continued deposition of amyloid derived from wild-type TTR
20659897 Novel Zn2+-binding sites in human transthyretin: implications for amyloidogenesis and retinol-binding protein recognition.
20646067 MT2 diminishes Transthyretin-Abeta binding, whereas MT3 has the opposite effect
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20547140 The result of this study suggested that the TTR gene is expressed in the Schwann cells of peripheral nerves.
20462367 findings show Swedish TTR V30M carriers have the same reduction in serum TTR as do other ethnic groups carrying the same or other TTR mutations
20462367 Observational study of gene-disease association. (HuGE Navigator)
20435197 after age 70, carriers show a higher frequency of congestive failure & greater mortality with more echocardiographic evidence suggestive of cardiac amyloidosis, findings consistent with age-dependent clinical penetrance of this autosomal dominant gene
20435197 Observational study of gene-disease association. (HuGE Navigator)
20388560 transthyretin sulfonation is an important trigger step in the formation of transthyretin-related amyloid fibril
20373457 an Ala36Pro transthyretin mutation may be responsible for transthyretin amyloid neuropathy [case report]
20211733 used structural and biophysical approaches to characterize genistein binding to the wild type (TTRwt) and to its most frequent amyloidogenic variant, the V30M mutant
20143571 Analysis of familial medical history demonstrated autosomal dominant inheritance of TTR Cys 114 gene mutation in 4 generations.
20132088 report two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome
19922456 Significant reductions in CSF TTR were found after cholinesterase inhibitor treatment in patients with Alzheimer's disease compared to untreated individuals.
19922332 the phenotype associated with five rare amyloidogenic TTR mutations that lately were discovered in Sweden
19913121 Observational study of gene-disease association. (HuGE Navigator)
19861125 Findings together with the low toxicity of the compound raise the possibility of using EGCG in a therapeutic approach for familial amyloidotic polyneuropathy, the most frequent form of hereditary TTR amyloidosis.
19808383 Case Report: Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.
19781421 ATTR V122I and AL are equally prevalent as the cause of cardiomyopathy in African Americans referred for a diagnosis of amyloidosis.
19703508 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19664600 clusterin strongly interacts with wild-type transthyretin (TTR) and TTR variants V30M and L55P under acidic conditions, and blocks the amyloid fibril formation of TTR variants.
19626480 Results describe a parent-of-origin effect in the penetrance of mutated transthyretin in transthyretin-related amyloid polyneuropathy.
19626479 Results indicate that carpal tunnel syndrome is not the sole distinctive feature in the majority of familial amyloid polyneuropathy transthyretin Val30Met patients.
19602727 rat and murine TTR have a lower intrinsic beta-aggregation propensity and a similar native beta-structure stability compared with human TTR.
19601795 Studies indicate that a mutated variant protein or precursor protein including amyloid beta peptide, cystatin C, prion protein, transthyretin and gelsolin is abnormally metabolized and accumulates as amyloid.
19501859 circulating retinol binding protein 4 and transthyretin were not affected by human obesity or type 2 diabetes mellitus
19493541 Observational study of gene-disease association. (HuGE Navigator)
19477408 TTR genotyping should be considered for any patient with cardiomyopathy of this phenotype.
19428025 The Asn90His mutation was found in 3 siblings, only one of whom had recurrent cerebral hemorrhages. The father did not have this allele but did have brain hemorrhages. His90Asn does not seem to be associated with cerebral amyloid or hemorrhage.
19410571 cerebrospinal fluid transthyretin concentration of the Guillain-Barre syndrome patients is significantly higher than that of the control
19401362 TTR production by trophoblasts may represent a mechanism to allow transfer of maternal thyroid hormone to the fetal circulation that could have important implications for fetal development.
19389624 Mass spectrometry data show that the natural ligand of transthyretin, thyroxine, provides a larger stability increase to the tetramer composed of variant subunits than to the wild-type protein-ligand complex.
19361464 Binding of cysteine and homocysteine may alter the structure and characteristics of serum TTR, and may facilitate TTR denaturation and deposition
19328595 There was no evidence of association of AD with any of the TTR SNPs in either ethnic group in the total sample or subset of families with MRI data
19328595 Observational study of gene-disease association. (HuGE Navigator)
19250316 Stability and fibril formation properties of human transthyretin.
19188365 the affinity to the ER-resident protein BiP regulates the fate of TTR variants in the ER.
19180884 mutation types in 3 families with suspected familial amyloid polyneuropathy were studied; mutations were ATTR Val30Met, Phe33Val & Gly67Glu; ATTR Gly67Glu family had a shorter survival time due to heart involvement compared with the other 2 families
19118530 The results show a higher proportion of wtTTR in the 12-months-surviving amyloidosis patient than the 3-weeks-surviving patient, but interestingly this difference in wt proportion is mainly seen among the full-length, and not the fragmented, molecules.
19021760 The protein-protein interactions between transthyretin and plasma retinol-binding protein were analysed by structural (X-ray crystallography) and genetic (amino acid substitutions) methods.
18930252 A 33-year-old man with FAP type I with genetic findings of transthyretin (TTR) revealed G to A transition in codon 54 causing a rare mutation of TTR Lys54.
18925456 TTR Val30Met mutation is associated with familial amyloid polyneuropathy.
18835560 TTR deposited in peripheral nervous system of familial amyloiditic polyneuropathy should be regarded as having blood or CSF orgin
18830126 12 TTR mutations were found in 30 transthyretin-derived amyloidosis patients with p.Val30Met being the most prevalent (5 patients)
18825272 Islets of Langerhans expression of transthyretin may be altered in type-2 diabetes.
18807501 Its dynamic structure changes due to pathogenic mutation and accumulates in various organs to cause amyloidosis. (review)
18688962 DNA testing for transthyretin is the most reliable test for transthyretin familial amyloid polyneuropathy in patient of Russian family.
18682810 The aqueous humor of glaucoma patients revealed characteristic differences in protein/peptide profiles from control patients using two different analytical methods, SELDI-TOF-MS and two-dimensional electrophoresis.
18662699 acidic conditions increase the susceptibility of the EF helix-loop of the B subunit to undergo conformational changes and unfold, destabilizing the tetramer and identifying conformational changes in the tetramer that lead to the amyloidogenic monomer
18655780 TTR identified patients at highest risk for metabolic losses associated with stress hypermetabolism.
18579156 novel Thr49Pro TTR gene mutation is associated with leptomeningeal amyloidosis resulting in recurrent CNS symptoms
18485534 These results indicate that HSF1 regulated genes are involved in familial amyloidotic polyneuropathy, modulating TTR tissue deposition.
18460047 The origin of the the TTR Val30Met familial amyloid polyneuropathy mutation arose independently in Portugal and in Sweden, and spread out from Portugal to Brazil.
18448869 Quantifying the transthyretin/prostaglandin-D-synthase complex in ventricular cerebrospinal fluid may be useful in the diagnosis of Alzheimer disease, possibly in its early stages.
18410945 FAP with TTR Val30Met mutation in Japan can be classified to (i) early-onset and endemic (Nagano and Kumamoto), (ii) late-onset and endemic (Ishikawa), and (iii) late-onset and non-endemic types.
18406527 TTR mRNA expression in caudate equina, dorsal root ganglia, frontal lobe.
18326041 Fluorescence-detected sedimentation velocity was used to determine the effect of S-sulfonate and S-cysteine on the quaternary structural stability of fluorophore-conjugated recombinant TTR.
18276611 conformational changes preceding the formation of amyloid, we performed molecular dynamics simulations of the wild-type monomer, amyloidogenic variants of transthyretin (V30M, L55P, V122I) and a protective variant (T119M) at neutral and low pH
18275060 transthyretin down-regulation may have a role in cholangiocarcinoma
18257091 Upregulation of transthyretin is associated with brain metastases in lung cancer
18252270 Serum transthyretin concentrations are not related to birth weight/gestational age and are not associated with either clinical condition at birth (as assessed by Apgar score) or the occurrence of respiratory distress syndrome.
18242169 In patients with renal disease, serum transthyretin is positively and independently related to body mass index and is significantly lower in malnourished than well-nourished patients.
18237193 TTR-MT1/2 complexes may be functionally significant not only in healthy conditions but also in Abeta deposition in Alzheimer disease.
18221012 a novel post-translational modification, gamma-carboxylation of the Glu-42 (Gla-42), of transthyretin was observed in moyamoya disease
18022643 Our study is the first case series gathering from the Chinese-Taiwanese population. We proposed a possible hot-spot mutation of the TTR gene, Ala97Ser, in this ethnic group.
17980738 Elevated IOP (intraocular pressure) may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene.
17968690 Report identified a novel TTR Gly67Glu mutant and it was the first case series of familial transthyretin amyloidosis.
17968687 Data are consistent with the continued deposition of normal transthyretin in cardiac tissue after liver transplantation.
17957146 Serum RBP4 and TTR showed no differences between controls/type 1 diabetic children.
17873539 First described case of a TTR-Phenylalanine-64-serine mutation in an African-American family with profound gastrointestinal symptoms.
17698792 DNA testing for transthyretin is the most reliable test for transthyretin familial amyloid polyneuropathy in patients with a progressive length-dependent small fiber polyneuropathy of unknown origin, especially when associated with autonomic dysfunction.
17683510 Reduced transthyretin expression is associated with lung cancer
17683281 proposed for TTR fibrillogenesis inhibitor screens avoids not only lengthy and cumbersome large-scale protein isolation steps but also artefacts associated with most current in vitro first-line screening methods
17671371 Extended high-temperature incubation of the highly amyloidogenic transthyretin mutant TTR G53S/E54D/L55S successfully removes heterogeneities and allows the reproducible growth of well diffracting crystals.
17630783 Data show that Cu(II) and Zn(II) promoted amyloid formation from the L55P mutant of transthyretin at pH 6.5.
17577688 present two families, from Spain and Portugal, with familial amyloid polyneuropathy (FAP) associated with the mutation TTRSer50Arg
17558848 Transthyretin mutation is associated with vitreous amyloid
17503405 study of 49 TTR mutations including 33 resulting in electrically neutral amino acid substitutions; most of the electrically neutral amyloidogenic TTR variants had in common a reduced conformational stability of monomers by the activity of protons & urea
17487420 These results suggest that oxidative stress to cells abrogates secretion of DJ-1 and that secreted DJ-1 degrades aggregated TTR to protect against the onset of FAP.
17466336 Thus, there was considerable phenotypic heterogeneity among family members with FAP despite the identical TTR genotype.
17431395 Endoplasmic reticulum quality control regulates the fate of TTR variants in the cell.
17378745 assays for TTR have a relatively high level of uncertainty; clinical evaluation--history and physical examination--should remain the mainstay of nutritional assessment.
17203960 results show that transthyretin is present in amniotic fluid of preeclamptic & control women as a mixture of dimeric & post-translationally modified monomeric forms; preeclamptic women showed a significant increase in the amount of monomeric proteins
17196219 The asymmetry and a possible destabilization of the tetrameric quaternary structure of TTR may be responsible for the amyloidogenic potential of the two TTR mutant forms at low pH.
17176092 Transthyretin preferentially binds to aggregated rather than monomeric beta-amyloid and arrests further growth of the aggregates.
17143887 Destabilization of the dimer-dimer interface and the monomer core is important for the amyloidogenesis of transthyretin.
17116243 the effect of oxidation on transthyretin was investigated by comparing the kinetics of fibril formation.
17062384 In amyloidosis, deposits in both vitreous and cardiac tissues were enriched in variant transthyretin, vitreous fibrils contained more variant protein than cardiac fibrils.
16893521 The finding of a structural difference between wildtype ATTR and ATTR V30M material on one hand and ATTR Y114C material on the other suggests that the fibril formation pathway of these ATTR variants may differ in vivo.
16879610 The unstructured N-terminal region of TTR critically influences the specificity and affinity of thyroid hormone binding to TTR.
16751191 show involvement of ER stress response in familial amyloid polyneuropathy by showing activation of classical unfolded protein response pathways in tissues not specialized in TTR synthesis but presenting extracellular TTR aggregate and fibril deposition.
16751065 Microarray analysis indicates HIV-1 Tat-induced downregulation of transthyretin (TTR) in primary human brain microvascular endothelial cells
16732734 C-terminal fragment of the TTR polypeptide chain seems to be crucial for production of abnormal fibrils.
16716350 data does not support an involvement of the TTR gene in the pathophysiology of schizophrenia
16698124 Transthyretin is clearly not produced in the brain parenchyma of wild-type mice nor in transgenic mouse models of Alzheimer's disease.
16690497 Amyloid deposition in the alveolar regions is a characteristic finding in aged patients with familial pulmonary amyloidosis caused by point mutations in amyloidogenic transthyretin.
16552785 First report describing the presence of differential post-translational oxidations of transthyretin in the cerebral spinal fluid of patients with Alzheimer's disease.
16487493 Serotonergic hypofunction in depression, reflected by low CSF 5-HIAA, may result in decreased choroid plexus transthyretin production, alterations in central thyroid hormone kinetics, and increased vulnerability to suicidal ideation and perhaps suicide
16386248 Data show that chromium(III) and thyroxine cooperatively suppress in vitro fibril formation due to the stabilization of WT-transthyretin (TTR) and V30M-TTR.
16225852 We have identified an siRNA that specifically inhibits mutant, but not wild-type, TTR expression even in cells expressing both alleles.
16219761 analysis of role of dimerization in transthyretin amyloidosis
16204882 crystal structure of the complex of human transthyretin (hTTR) with 3,3',5,5'-tetraiodothyroacetic acid (T4Ac) determined to 2.2 Angstrom resolution
16194875 A Swedish family is reported with rare Phe33Leu transthyretin mutation; the phenotype is characterized by familial amyloidotic polyneuropathy and carpal tunnel syndrome.
16185074 results suggest that an intermolecular cysteine bridge at position 114 enhances the exposure of cysteine 10, thereby facilitating additional intermolecular cysteine assemblies
16159939 All three major serum-binding proteins, thyroxine-binding globulin, transthyretin, and albumin, were present in cytosol. May modify thyroid hormone deiodination and materno-fetal thyroid hormone transport.
16130282 Present in all the eye structures except the lens and tear. Significant decrease in vitreous TTR in diabetes with hypertension and increase in one case each of diabetes with hypertension associated with leukaemia or carcinoma with hepato-splenomegaly.
16114899 TTR can bind to the plasma membrane and cause a change in membrane fluidity which may be the cause of neurotoxicity.
16079207 Protein synthesis, including TTR, was reduced in old sheep CP and in newly secreted CSF. These age-related changes suggest reduced capacity of CP to maintain CSF T4 homeostasis and be an added risk for Alzheimer's disease.
16076613 Mutation in the TTR-amyloid fibril protein is associated with familial amyloid polyneuropathy
16053476 A patient with familial amyloid polyneuropathy. Gene analysis revealed a heterozygous Glu54Gly substitution (A-to-G change) in the transthyretin gene.
16011990 Observational study of genotype prevalence. (HuGE Navigator)
15995833 An Italian family with TTR arg47 mutation whose members (two women and their father) showed a rapid progression of the peripheral nervous system involvement and died within 5 years of clinical onset.
15930086 homozygosity for an amyloidogenic transthyretin mutation may have an effect on phenotype and long term outcome in fatal neuropathic amyloidosis
15821170 biophysical analysis of human transthyretin under partially denaturing conditions
15793844 We report a Chinese patient with amyloidotic polyneuropathy associated with a novel transthyretin mutation (V32A)... likely to be associated with late onset and low-penetrance phenotype.
15736938 Serine112isoleucine variant transthyretin exists as a dimer with nonnative tertiary interactions; it self-assembles under nearly physiological conditions into insoluble spherical aggregates that induce cell death in a human neuroblastoma cell line.
15649951 Observational study of gene-disease association. (HuGE Navigator)
15536615 Muscular amyloid angiopathy may contribute to motor nerve injury that, in turn, may lead to amyotropic changes in patients with FAP Ser50Ile and Tyr114Cys.
15214015 mutant TTR may have a role in a severe form of amyloidotic polyneuropathy
15210129 The packing of transthyretin molecules in the C2 crystal form and in the previously determined amyloid TTR (ATTR) Leu55Pro crystal structure is close-to-identical
15033978 TTR can act as a novel plasma cryptic protease and might have a new, potentially important role under physiological and/or pathological conditions.
14981241 TTR monomers rapidly aggregate to form transient low molecular mass assemblies that are highly cytotoxic in tissue culture.
14690414 Urea-induced unfolding data indicate that amyloidogenic Tyr114His and Tyr116Ser mutations of transthyretin reduce the stability of its secondary, tertiary, and quaternary structure.
14673473 genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden
14604984 solvent accessibility analysis of transthyretin amyloid by NMR
14578606 a novel transthyretin (TTR) variant, aspartic acid-18 glutamic acid (Glu), causing TTR-related cardiac amyloidosis in a heterozygote
14534839 TTR dimers containing amyloidogenic TTR mutations decay into monomers at pH<7.4
14507924 homocysteine and human plasma transthyretin bind and have roles in the pathological consequences of amyloid disease
14506715 Wild-type TTR co-deposits in peripheral nerves with variant TTR as amyloid fibril. Progression of amyloid deposition in peripheral nerves from wild-type TTR may occur after liver transplantation, as has been seen in the heart.
12900507 consecutive cycles of compression-decompression under aggregating conditions lead to reversible dissociation of transthyretin and alpha-synuclein fibrils
12876326 novel pathologic TTR variant with an amino acid substitution (Phe->Cys) at position 33; the Cys33 residue was S-sulfonated and S-thiolated (conjugated to cysteine, cysteinylglycine, and glutathione); these adducts may play a role in TTR fibrillogenesis
12874858 an unidirectional dimer to monomer transition of normal TTR is achieved at 70-80 degrees C in neutral to mild alkaline buffers or at 37 degrees C and slightly acidic pH (6-7). Addition of urea favors the transition into monomers.
12874414 In human muscle, the Val122Ile TTR mutation predisposes to A[beta] deposition and amyloidogenesis and increases presumably toxic intracellular A[beta] oligomers.
12697331 Transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts.
12566023 The ATTR Val30 Met and ATTR Tyr114Cys mutations induce different clinical features of vitreous opacities
12560553 transthyretin amyloidosis inhibitors functioned by increasing the kinetic barrier associated with misfolding, preventing amyloidogenesis by stabilizing the native state; the trans-suppressor mutation also functioned through kinetic stabilization
12481032 TTR(105-115) adopts an extended beta-strand conformation that is similar to that found in the native protein except for substantial differences in the vicinity of the proline residue.
12433265 Differences in clinical and geographic features between early- and late-onset familial amyloid polyneuropathy TTR Met30 have been confirmed in Japanese patients with onset before and after 50 years of age.
12403615 The amyloidogenic TTR mutant Y114C exists in three forms: one unstable but nativelike tetrameric form, one highly aggregated form in which a network of disulfide bonds is formed, and one fibrillar form.
12354101 role in naso-maxillary deformity in transgenic mice
12095258 The correlation between destabilization of the transthyretin core strands and the tendency for amyloid formation(familial amyloid polyneuropathy variants) supports the view that these strands are involved in amyloidogenicity
12082059 DNA analysis showed heterozygosity for normal TTR and the amyloidogenic mutation ATTR (Val30Met) leading to the diagnosis of familial amyloidotic polyneuropathy.
12039669 Transthyretin Val 107 in a Japanese patient with familial amyloid polyneuropathy. point mutation responsible for substitution of valine for isoleucine at position 107
11995997 Structural basis of negative cooperativity in transthyretin
11913969 Inhibition of transthyretin amyloid fibril formation by 2,4-dinitrophenol through tetramer stabilization
11577236 incorporation of one or more T119M transthyretin mutant subunits into a predominantly V30M tetramer strongly stabilized the mixed tetramer against dissociation
11478875 In a model of amyloidogenesis, chemically cross-linked dimeric forms of transthyretin are able to assemble into amyloid fibrils from oligomeric protein building blocks rather than from structurally rearranged monomers.
11418763 structure of a new polymorphic monoclinic form of human transthyretin at 3 A resolution reveals a mixed complex between unliganded and T4-bound tetramers of TTR
11106758 the beta-slip structure and amyloidosis

AA Sequence

MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDTWEPFASGKTS      1 - 70
ESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDSGPRRYTIAALLSPYSYSTTA     71 - 140
VVTNPKE                                                                   141 - 147
//

Text Mined References (481)

PMID Year Title
26998642 2016 Structural Changes Associated with Transthyretin Misfolding and Amyloid Formation Revealed by Solution and Solid-State NMR.
26656838 2016 Survival After Transplantation in Patients With Mutations Other Than Val30Met: Extracts From the FAP World Transplant Registry.
26587769 2015 Two brothers homozygous for the TTR V30M both presenting with a phenotype dominated by central nervous complications.
26527142 2015 The putative role of some conserved water molecules in the structure and function of human transthyretin.
26459562 2015 Uncovering the Mechanism of Aggregation of Human Transthyretin.
26444765 2015 The Expression of Transthyretin and Amyloid-? Protein Precursor is Altered in the Brain of Idiopathic Normal Pressure Hydrocephalus Patients.
26428663 2016 The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.
26369527 2015 Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.
26249340 2015 Structural evidence for asymmetric ligand binding to transthyretin.
26003908 2015 Serum transthyretin is a predictor of clinical outcomes in critically ill trauma patients.
25940564 2015 Transthyretin deposition in articular cartilage: a novel mechanism in the pathogenesis of osteoarthritis.
25910794 2015 Quantitative analysis of post-translational modifications in human serum transthyretin associated with familial amyloidotic polyneuropathy by targeted LC-MS and intact protein MS.
25872787 2015 Tafamidis in transthyretin amyloid cardiomyopathy: effects on transthyretin stabilization and clinical outcomes.
25857202 2015 Transthyretin Asp38Tyr: a new mutation associated to a late onset neuropathy.
25743445 2015 Cardiac findings and events observed in an open-label clinical trial of tafamidis in patients with non-Val30Met and non-Val122Ile hereditary transthyretin amyloidosis.
25737004 2015 The diversity of mechanisms influenced by transthyretin in neurobiology: development, disease and endocrine disruption.
25721874 2015 A genealogical and clinical study of the phenotypical variation within the Swedish transthyretin His88Arg (p. His108Arg) amyloidosis family.
25644864 2015 Asp58Ala is the predominant mutation of the TTR gene in Korean patients with hereditary transthyretin-related amyloidosis.
25551524 2015 The amyloidogenic V122I transthyretin variant in elderly black Americans.
25550818 2014 Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
25509863 [Identification of transthyretin posttranslational modifications 1n human blood using mass-spectrometric methods].
25478940 2015 Cooperative stabilization of transthyretin by clusterin and diflunisal.
25416956 2014 A proteome-scale map of the human interactome network.
25395306 2015 Amyloidogenic and non-amyloidogenic transthyretin variants interact differently with human cardiomyocytes: insights into early events of non-fibrillar tissue damage.
25372987 2015 An insight to the conserved water mediated dynamics of catalytic His88 and its recognition to thyroxin and RBP binding residues in human transthyretin.
25372741 2014 Transthyretin: a multifaceted protein.
25367359 2015 Genetic variation of the transthyretin gene in wild-type transthyretin amyloidosis (ATTRwt).
25245430 2014 Quantification of quaternary structure stability in aggregation-prone proteins under physiological conditions: the transthyretin case.
25091367 2015 CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings.
25086037 2014 The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses.
25060417 2014 Efficacy of diflunisal on autonomic dysfunction of late-onset familial amyloid polyneuropathy (TTR Val30Met) in a Japanese endemic area.
25018619 2014 Aqueous humor erythropoietin levels in open-angle glaucoma patients with and without TTR V30M familial amyloid polyneuropathy.
24945718 2014 A complex equilibrium among partially unfolded conformations in monomeric transthyretin.
24849358 2014 The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice.
24781992 2014 Effect of MPO/H2O2/NO(-) system on nitric oxide-mediated modification of TTR amyloid and serum TTR in FAP ATTR Val30Met patients.
24779883 2014 In silico analysis of TTR gene (coding and non-coding regions, and interactive network) and its implications in transthyretin-related amyloidosis.
24690176 2014 Monitoring of the serum proteome in Kawasaki disease patients before and after immunoglobulin therapy.
24661308 2014 Quantification of transthyretin kinetic stability in human plasma using subunit exchange.
24648510 2014 Physiological IgM class catalytic antibodies selective for transthyretin amyloid.
24563469 2014 Left ventricular structure and function in transthyretin-related versus light-chain cardiac amyloidosis.
24555660 2014 Frequency of the transthyretin Val30Met mutation in the northern Swedish population.
24528201 2014 The A?-clearance protein transthyretin, like neprilysin, is epigenetically regulated by the amyloid precursor protein intracellular domain.
24480837 2014 Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
24474780 2014 Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.
24455802 Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis.
24390749 2014 Clinical and laboratory characteristics of patients having amyloidogenic transthyretin deposition in osteoarthritic knee joints.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24184229 2014 Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.
24182678 2013 Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy: a proteomic approach.
24164623 2014 Transthyretin aggregate-specific antibodies recognize cryptic epitopes on patient-derived amyloid fibrils.
24113303 2014 Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.
24070596 2014 Characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock.
24053266 2013 Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy.
24035612 2013 Transthyretin is dysregulated in preeclampsia, and its native form prevents the onset of disease in a preclinical mouse model.
24030829 2013 Transthyretin proteins regulate angiogenesis by conferring different molecular identities to endothelial cells.
23901247 2013 Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.
23860318 2013 A distal estrogen responsive element upstream the cap site of human transthyretin gene is an enhancer-like element upon ER? and/or ER? transactivation.
23792159 2013 Structural evidence for native state stabilization of a conformationally labile amyloidogenic transthyretin variant by fibrillogenesis inhibitors.
23734638 2013 Synovial deposition of wild-type transthyretin-derived amyloid in knee joint osteoarthritis patients.
23716704 2013 AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin.
23713495 2013 Amyloid fibrils containing fragmented ATTR may be the standard fibril composition in ATTR amyloidosis.
23623341 2013 Prealbumin improves death risk prediction of BNP-added Seattle Heart Failure Model: results from a pilot study in elderly chronic heart failure patients.
23580146 2013 Genetic stabilization of transthyretin, cerebrovascular disease, and life expectancy.
23579071 2013 Hepatic production of transthyretin L12P leads to intracellular lysosomal aggregates in a new somatic transgenic mouse model.
23546595 2013 Identification and verification of transthyretin as a potential biomarker for pancreatic ductal adenocarcinoma.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23523753 2013 The impact of V30A mutation on transthyretin protein structural stability and cytotoxicity against neuroblastoma cells.
23465306 Transthyretin as a potential serological marker for the diagnosis of patients with early rheumatoid arthritis.
23438977 2013 Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.
23414091 2013 Age-related oxidative modifications of transthyretin modulate its amyloidogenicity.
23387326 2013 Presence of N-glycosylated transthyretin in plasma of V30M carriers in familial amyloidotic polyneuropathy: an escape from ERAD.
23385359 2013 Parkinson's disease plasma biomarkers: an automated literature analysis followed by experimental validation.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23319365 2013 Oxidative modifications of cerebral transthyretin are associated with multiple sclerosis.
23317988 2013 Delayed diagnosis of transthyretin amyloidosis with a novel mutation (c.210T>A) in the transthyretin gene.
23306657 2013 Neurophysiological markers of small fibre neuropathy in TTR-FAP mutation carriers.
23279339 2012 Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset.
23244293 2013 ATTR amyloid in the carpal tunnel ligament is frequently of wildtype transthyretin origin.
23240369 2012 Clinical and genetic findings in eight Israeli patients with transthyretin-associated familial amyloid polyneuropathy.
23225017 2012 Familial amyloidotic polyneuropathy and transthyretin.
23225009 2012 Experimental inhibition of fibrillogenesis and neurotoxicity by amyloid-beta (A?) and other disease-related peptides/proteins by plant extracts and herbal compounds.
23225005 2012 Mechanisms of transthyretin aggregation and toxicity.
23185504 2012 Allele specific expression of the transthyretin gene in swedish patients with hereditary transthyretin amyloidosis (ATTR V30M) is similar between the two alleles.
23133543 2012 Serum and cerebrospinal fluid levels of transthyretin in Lewy body disorders with and without dementia.
23129325 2012 Contrasting effects of type 2 and type 1 diabetes on plasma RBP4 levels: the significance of transthyretin.
23079095 2013 Does pre-albumin predict in-hospital mortality in heart failure?
22984597 2012 Distinct annular oligomers captured along the assembly and disassembly pathways of transthyretin amyloid protofibrils.
22975527 2013 Functional analysis of misfolded transthyretin extracted from abnormal vitreous with high myopia related ocular pathologies.
22968245 2012 Increased energy intake in hip fracture patients affects nutritional biochemical markers.
22949539 2012 Transthyretin (TTR) cardiac amyloidosis.
22948197 2012 Low perioperative serum prealbumin predicts early recurrence after curative pulmonary resection for non-small-cell lung cancer.
22928869 2012 Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation.
22889670 2012 Cerebrospinal fluid biomarkers of neuropathologically diagnosed Parkinson's disease subjects.
22847813 2012 Human placental transthyretin in fetal growth restriction in combination with preeclampsia and the HELLP syndrome.
22842046 2012 Flavonoid interactions with human transthyretin: combined structural and thermodynamic analysis.
22826435 2012 Transthyretin blocks retinol uptake and cell signaling by the holo-retinol-binding protein receptor STRA6.
22795285 2012 The electrocardiographic features associated with cardiac amyloidosis of variant transthyretin isoleucine 122 type in Afro-Caribbean patients.
22784244 2012 Analysis of mitochondrial haplogroups associated with TTR Val30Ala familial amyloidotic polyneuropathy in Chinese patients.
22698061 2012 Transthyretin decrease in plasma of MCI and AD patients: investigation of mechanisms for disease modulation.
22670059 2012 Identification of beta-amyloid-binding sites on transthyretin.
22607976 2012 STT3B-dependent posttranslational N-glycosylation as a surveillance system for secretory protein.
22592564 2013 TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients.
22579241 2012 Supercentenarians and transthyretin amyloidosis: the next frontier of human life extension.
22439750 2012 Quaternary structure, aggregation and cytotoxicity of transthyretin.
22412233 2012 Direct tissue evaluation via immunofluorescence: in the diagnosis of hereditary transthyretin cardiac amyloidosis.
22362898 2012 Why are some amyloidoses systemic? Does hepatic "chaperoning at a distance" prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis?
22311483 2012 [Identification of a TTR gene mutation in a family with hereditary vitreous amyloidosis].
22301727 2012 [Hereditary cardiac amyloidosis with transthyretin mutations. A cause of sudden death ].
22264585 2012 Secretion and transfer of the thyroid hormone binding protein transthyretin by human placenta.
22248451 2012 Hydrogen-bond network and pH sensitivity in transthyretin: Neutron crystal structure of human transthyretin.
22228785 2012 Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas.
22187309 2011 A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.
22169613 2011 [Differential expression and significance of complement C4b and transthyretin in proliferative vitreoretinopathy].
22120741 2011 Structural insights into a zinc-dependent pathway leading to Leu55Pro transthyretin amyloid fibrils.
22102249 2011 Preliminary neutron crystallographic study of human transthyretin.
22091638 2011 Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid.
22080762 2011 The relative amounts of plasma transthyretin forms in familial transthyretin amyloidosis: a quantitative analysis by Fourier transform ion-cyclotron resonance mass spectrometry.
22045754 2012 Expression and uptake of the thyroxine-binding protein transthyretin is regulated by oxygen in primary trophoblast placental cells.
22027013 2012 Genetic analysis of genes involved in amyloid-? degradation and clearance in Alzheimer's disease.
22002789 2012 Plasma transthyretin as a candidate marker for Alzheimer's disease.
21945954 2011 Strong transthyretin immunostaining: potential pitfall in cardiac amyloid typing.
21945519 2011 Ontogenic changes in placental transthyretin.
21880910 2011 Neuronal production of transthyretin in human and murine Alzheimer's disease: is it protective?
21878437 2011 Genome-wide association study of circulating retinol levels.
21843040 2012 Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.
21841252 2011 Gender-dependent transthyretin modulation of brain amyloid-? levels: evidence from a mouse model of Alzheimer's disease.
21821015 2011 Correlation of misfolded transthyretin in abnormal vitreous and high myopia related ocular pathologies.
21777382 2011 Effect of the N-terminal sequence on the binding affinity of transthyretin for human retinol-binding protein.
21740906 2011 Natural polyphenols inhibit different steps of the process of transthyretin (TTR) amyloid fibril formation.
21739396 2011 Amyloid neuropathy with transthyretin mutations: overview and unique Ala97Ser in Taiwan.
21733562 2011 High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome: a common cause of carpal tunnel syndrome in the elderly.
21714897 2011 The ratio of CRP to prealbumin levels predict mortality in patients with hospital-acquired acute kidney injury.
21600538 2011 Relation of clinical, echocardiographic and electrocardiographic features of cardiac amyloidosis to the presence of the transthyretin V122I allele in older African-American men.
21540676 2011 Asymptomatic homozygous gene carrier in a family with Ile68Leu ATTR amyloidosis: a new endemic region in northern Tuscany?
21537325 2011 Loss of functional albumin triggers acceleration of transthyretin amyloid fibril formation in familial amyloidotic polyneuropathy.
21521316 2011 Leptin is better than any other biological parameter for monitoring the efficacy of renutrition in hospitalized malnourished elderly patients.
21461579 Confirmation of the biological significance of transthyretin as a biomarker for cutaneous T-cell lymphoma by its protein interaction partners.
21439703 2011 [Familial approach in hereditary transthyretin cardiac amyloidosis].
21434877 2012 Altered cerebrospinal fluid index of prealbumin, fibrinogen, and haptoglobin in patients with Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy.
21422279 2011 Heparan sulfate/heparin promotes transthyretin fibrillization through selective binding to a basic motif in the protein.
21420946 2011 Vitreous and serum levels of transthyretin (TTR) in high myopia patients are correlated with ocular pathologies.
21406045 2011 Thermodynamic stability and denaturation kinetics of a benign natural transthyretin mutant identified in a Danish kindred.
21397913 2011 Clinical and histopathological features of familial amyloidotic polyneuropathy with transthyretin Val30Ala in a Chinese family.
21358362 Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M.
21335655 2011 Human serum transthyretin levels correlate inversely with Alzheimer's disease.
21280184 2011 Continuous development of arrhythmia is observed in Swedish transplant patients with familial amyloidotic polyneuropathy (amyloidogenic transthyretin Val30Met variant).
21208750 2011 Thyroid hormone transporter genes and grey matter changes in patients with major depressive disorder and healthy controls.
21191093 2011 Pressure-volume relationships in patients with transthyretin (ATTR) cardiac amyloidosis secondary to V122I mutations and wild-type transthyretin: Transthyretin Cardiac Amyloid Study (TRACS).
21179887 2010 A non-invasive method based on saliva to characterize transthyretin in familial amyloidotic polyneuropathy patients using FT-ICR high-resolution MS.
21179560 2010 Uptake of aggregating transthyretin by fat body in a Drosophila model for TTR-associated amyloidosis.
21174946 2010 Structural insight to mutated Y116S transthyretin by molecular dynamics simulation.
21135536 2011 Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.
21104416 2010 Analysis of the expression pattern of the carrier protein transthyretin and its receptor megalin in the human scalp skin and hair follicles: hair cycle-associated changes.
21077797 2010 Transthyretin-related vitreous amyloidosis in different endemic areas.
21056899 2011 Wild-type transthyretin significantly contributes to the formation of amyloid fibrils in familial amyloid polyneuropathy patients with amyloidogenic transthyretin Val30Met.
20964562 2011 A combined biomarker pattern improves the discrimination of lung cancer.
20949480 2011 Transthyretin, identified by proteomics, is overabundant in pancreatic juice from pancreatic carcinoma and originates from pancreatic islets.
20840742 2010 A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.
20736409 2010 Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins.
20735474 2010 Hepatocyte nuclear factor-4? interacts with other hepatocyte nuclear factors in regulating transthyretin gene expression.
20697105 2010 Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser.
20660862 2010 Progression of transthyretin amyloid neuropathy after liver transplantation.
20659897 2010 Novel Zn2+-binding sites in human transthyretin: implications for amyloidogenesis and retinol-binding protein recognition.
20646067 2010 Human metallothioneins 2 and 3 differentially affect amyloid-beta binding by transthyretin.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20547140 2010 The transthyretin gene is expressed in Schwann cells of peripheral nerves.
20462367 2010 Serum transthyretin levels in Swedish TTR V30M carriers.
20435197 2010 Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.
20388560 2010 S-sulfonation of transthyretin is an important trigger step in the formation of transthyretin-related amyloid fibril.
20373457 2010 Poor outcome after liver transplantation for transthyretin amyloid neuropathy in a family with an Ala36Pro transthyretin mutation: case report.
20211733 2010 Conformational differences between the wild type and V30M mutant transthyretin modulate its binding to genistein: implications to tetramer stability and ligand-binding.
20143571 2009 [Familial transthyretin amyloidosis].
20132088 2010 Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy.
19922456 2010 Transthyretin as a potential CSF biomarker for Alzheimer's disease and dementia with Lewy bodies: effects of treatment with cholinesterase inhibitors.
19922332 2009 Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19861125 2009 Binding of epigallocatechin-3-gallate to transthyretin modulates its amyloidogenicity.
19808383 2009 Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.
19781421 2009 Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.
19703508 2009 Positive association between ALDH1A2 and schizophrenia in the Chinese population.
19664600 2009 Clusterin regulates transthyretin amyloidosis.
19626480 2009 Parent-of-origin effect in transthyretin related amyloid polyneuropathy.
19626479 2009 The significance of carpal tunnel syndrome in transthyretin Val30Met familial amyloid polyneuropathy.
19602727 2009 Amyloidogenic potential of transthyretin variants: insights from structural and computational analyses.
19601795 2009 Cerebral amyloid angiopathy: a common cause of cerebral hemorrhage.
19501859 2009 Factors that influence retinol-binding protein 4-transthyretin interaction are not altered in overweight subjects and overweight subjects with type 2 diabetes mellitus.
19493541 2009 Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met.
19477408 2009 Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected].
19428025 2009 Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic role.
19410571 2009 Analyses of transthyretin concentration in the cerebrospinal fluid of patients with Guillain-Barré syndrome and other neurological disorders.
19401362 2009 Carrier-mediated thyroid hormone transport into placenta by placental transthyretin.
19389624 2009 Gas-phase unfolding and disassembly reveals stability differences in ligand-bound multiprotein complexes.
19361464 2009 Characterization of cysteine and homocysteine bound to human serum transthyretin.
19328595 2011 Association of TTR polymorphisms with hippocampal atrophy in Alzheimer disease families.
19250316 2009 Stability and fibril formation properties of human and fish transthyretin, and of the Escherichia coli transthyretin-related protein.
19188365 2009 The Endoplasmic Reticulum-associated Degradation of Transthyretin Variants Is Negatively Regulated by BiP in Mammalian Cells.
19180884 2008 Clinical and genetic analysis of three families with familiar amyloid polyneuropathy.
19167329 2009 Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.
19118530 2009 Proportion between wild-type and mutant protein in truncated compared to full-length ATTR: an analysis on transplanted transthyretin T60A amyloidosis patients.
19021760 2008 Structural and mutational analyses of protein-protein interactions between transthyretin and retinol-binding protein.
18930252 2009 Clinical and histopathological features of progressive-type familial amyloidotic polyneuropathy with TTR Lys54.
18925456 2008 Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population.
18835560 2008 Transthyretin is not expressed by dorsal root ganglia cells.
18830126 2009 Prevalence of germline mutations in the TTR gene in a consecutive series of surgical pathology specimens with ATTR amyloid.
18825272 2008 Transthyretin and amyloid in the islets of Langerhans in type-2 diabetes.
18811132 2008 Toward optimization of the linker substructure common to transthyretin amyloidogenesis inhibitors using biochemical and structural studies.
18807501 2008 [Structural changes of transthyretin and its cytotoxicity].
18688962 2007 [Familial amyloid neuropathy associated with the Cys114 mutation of the transthyretin gene in a Russian family].
18682810 2008 Transthyretin and complex protein pattern in aqueous humor of patients with primary open-angle glaucoma.
18662699 2008 Structural insight into pH-induced conformational changes within the native human transthyretin tetramer.
18655780 2008 Transthyretin as a marker to predict outcome in critically ill patients.
18579156 2008 A new Thr49Pro transthyretin gene mutation associated with leptomeningeal amyloidosis.
18485534 2010 The heat shock response modulates transthyretin deposition in the peripheral and autonomic nervous systems.
18460047 2008 On the origin of the transthyretin Val30Met familial amyloid polyneuropathy.
18448869 2008 An aberrant protein complex in CSF as a biomarker of Alzheimer disease.
18410945 2008 Epidemiology of familial amyloid polyneuropathy in Japan: Identification of a novel endemic focus.
18406527 2008 The transthyretin gene is expressed in human and rodent dorsal root ganglia.
18326041 2008 The modulation of transthyretin tetramer stability by cysteine 10 adducts and the drug diflunisal. Direct analysis by fluorescence-detected analytical ultracentrifugation.
18276611 2008 Different disease-causing mutations in transthyretin trigger the same conformational conversion.
18275060 2008 Serum levels of variants of transthyretin down-regulation in cholangiocarcinoma.
18257091 2008 ProApolipoprotein A1: a serum marker of brain metastases in lung cancer patients.
18252270 2008 Transthyretin levels are not related to Apgar score in low birth weight and very low birth weight infants.
18242169 2008 Is serum transthyretin a reliable marker of nutritional status in patients with end-stage renal disease?
18237193 2008 Transthyretin interacts with metallothionein 2.
18221012 2008 Detection of a gamma-carboxy-glutamate as novel post-translational modification of human transthyretin.
18155178 2008 Iodination of salicylic acid improves its binding to transthyretin.
18095641 2008 Biochemical and structural evaluation of highly selective 2-arylbenzoxazole-based transthyretin amyloidogenesis inhibitors.
18022643 2008 Transthyretin Ala97Ser in Chinese-Taiwanese patients with familial amyloid polyneuropathy: genetic studies and phenotype expression.
17980738 2007 Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.
17968690 2007 Identification of a novel TTR Gly67Glu mutant and the first case series of familial transthyretin amyloidosis in Hong Kong Chinese.
17968687 2007 Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation.
17957146 2007 High-normal C-reactive protein levels do not affect the vitamin A transport complex in serum of children and adolescents with type 1 diabetes.
17873539 2007 Gastrointestinal amyloidosis associated with transthyretin Phe64Ser mutation.
17698792 2007 Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).
17683510 2007 Reduced transthyretin expression in sera of lung cancer.
17683281 2007 Comparative in vitro and ex vivo activities of selected inhibitors of transthyretin aggregation: relevance in drug design.
17671371 2007 Heating of proteins as a means of improving crystallization: a successful case study on a highly amyloidogenic triple mutant of human transthyretin.
17635579 2007 Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene.
17630783 2007 Characterization of the binding of Cu(II) and Zn(II) to transthyretin: effects on amyloid formation.
17577688 2007 Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene.
17577687 2007 A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains.
17558848 2007 A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid.
17503405 2007 Genetic microheterogeneity of human transthyretin detected by IEF.
17487420 2007 DJ-1 degrades transthyretin and an inactive form of DJ-1 is secreted in familial amyloidotic polyneuropathy.
17466336 2007 Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.
17453626 2007 A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.
17431395 2007 Endoplasmic reticulum quality control regulates the fate of transthyretin variants in the cell.
17378745 2007 Clinical indications for plasma protein assays: transthyretin (prealbumin) in inflammation and malnutrition.
17203960 2007 Oxidized transthyretin in amniotic fluid as an early marker of preeclampsia.
17196219 2007 Acidic pH-induced conformational changes in amyloidogenic mutant transthyretin.
17176092 2006 Kinetics of inhibition of beta-amyloid aggregation by transthyretin.
17175208 2007 Structural basis for the protective role of sulfite against transthyretin amyloid formation.
17143887 2007 Destabilization of transthyretin by pathogenic mutations in the DE loop.
17116243 2006 Oxidation inhibits amyloid fibril formation of transthyretin.
17062384 2006 Biochemical characterization of vitreous and cardiac amyloid in Ile84Ser transthyretin amyloidosis.
16893521 2006 Surface exposed epitopes and structural heterogeneity of in vivo formed transthyretin amyloid fibrils.
16892178 2006 Differentiation of human embryonic stem cells into hepatocytes in 2D and 3D culture systems in vitro.
16879610 2006 Change in structure of the N-terminal region of transthyretin produces change in affinity of transthyretin to T4 and T3.
16751191 2006 Endoplasmic reticulum stress associated with extracellular aggregates. Evidence from transthyretin deposition in familial amyloid polyneuropathy.
16732734 2006 Role of the C-terminal fragment of human transthyretin in abnormal fibrillogenesis.
16716350 2007 Transthyretin: no association between serum levels or gene variants and schizophrenia.
16716307 2006 In vitro inhibition of transthyretin aggregate-induced cytotoxicity by full and peptide derived forms of the soluble receptor for advanced glycation end products (RAGE).
16698124 2007 Transthyretin and Alzheimer's disease: where in the brain?
16690497 2006 Aging and transthyretin-related amyloidosis: pathologic examinations in pulmonary amyloidosis.
16627944 2006 The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin.
16552785 2006 Differential post-translational modifications of transthyretin in Alzheimer's disease: a study of the cerebral spinal fluid.
16502470 2006 Human colostrum: identification of minor proteins in the aqueous phase by proteomics.
16487493 2006 Low cerebrospinal fluid transthyretin levels in depression: correlations with suicidal ideation and low serotonin function.
16433699 2006 Familial carpal tunnel syndrome: further evidence for a genetic contribution.
16386248 2006 Chromium(III) ion and thyroxine cooperate to stabilize the transthyretin tetramer and suppress in vitro amyloid fibril formation.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16225852 2005 Selective silencing of a mutant transthyretin allele by small interfering RNAs.
16219761 2005 L55P transthyretin accelerates subunit exchange and leads to rapid formation of hybrid tetramers.
16204882 2005 Ligand binding at the transthyretin dimer-dimer interface: structure of the transthyretin-T4Ac complex at 2.2 Angstrom resolution.
16199891 2005 Comparative proteomic analysis of intra- and interindividual variation in human cerebrospinal fluid.
16194875 2005 A Swedish family with the rare Phe33Leu transthyretin mutation.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16185074 2005 Cys114-linked dimers of transthyretin are compatible with amyloid formation.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16159939 2005 Synthesis of thyroid hormone binding proteins transthyretin and albumin by human trophoblast.
16130282 1999 Transthyretin (prealbumin) in eye structures and variation of vitreous-transthyretin in diseases.
16114899 2005 Binding of amyloidogenic transthyretin to the plasma membrane alters membrane fluidity and induces neurotoxicity.
16079207 2005 Decrease of transthyretin synthesis at the blood-cerebrospinal fluid barrier of old sheep.
16076613 2005 Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.
16053476 2005 An aggressive form of familial amyloid polyneuropathy caused by a Glu54Gly mutation in the transthyretin gene.
16011990 2005 A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.
15995833 2005 Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutation.
15981995 2005 The effect of iodide and chloride on transthyretin structure and stability.
15930086 2005 Impact of homozygosity for an amyloidogenic transthyretin mutation on phenotype and long term outcome.
15826192 2005 Kinetic stabilization of an oligomeric protein by a single ligand binding event.
15821170 2005 Initial conformational changes of human transthyretin under partially denaturing conditions.
15793844 2005 A novel transthyretin mutation V32A in a Chinese man with late-onset amyloid polyneuropathy.
15769474 2005 Kinetic stabilization of the native state by protein engineering: implications for inhibition of transthyretin amyloidogenesis.
15736938 2005 Dimeric transthyretin variant assembles into spherical neurotoxins.
15735344 2005 X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis.
15649951 2005 Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.
15536615 2005 Muscular amyloid angiopathy with amyloidgenic transthyretin Ser50Ile and Tyr114Cys.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15478468 2004 An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy.
15217993 2004 Identification of transthyretin variants by sequential proteomic and genomic analysis.
15214015 2004 A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys).
15210129 2004 The beta-strand D of transthyretin trapped in two discrete conformations.
15033978 2004 Transthyretin, a new cryptic protease.
14981241 2004 Tissue damage in the amyloidoses: Transthyretin monomers and nonnative oligomers are the major cytotoxic species in tissue culture.
14760718 2004 Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
14711308 2004 Diflunisal analogues stabilize the native state of transthyretin. Potent inhibition of amyloidogenesis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14690414 2003 Biophysical analyses of the transthyretin variants, Tyr114His and Tyr116Ser, associated with familial amyloidotic polyneuropathy.
14673473 2004 Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden.
14604984 2004 Probing solvent accessibility of transthyretin amyloid by solution NMR spectroscopy.
14583036 2003 Synthesis and characterization of potent bivalent amyloidosis inhibitors that bind prior to transthyretin tetramerization.
14578606 2003 Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation.
14534839 2004 Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin.
14507924 2003 In vitro and in vivo interactions of homocysteine with human plasma transthyretin.
14506715 2003 Contribution of wild-type transthyretin to hereditary peripheral nerve amyloid.
13367520 1956 Familial primary systemic amyloidosis: an experimental, genetic and clinical study.
12900507 2003 Dissociation of amyloid fibrils of alpha-synuclein and transthyretin by pressure reveals their reversible nature and the formation of water-excluded cavities.
12876326 2003 Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.
12874858 2003 Polyacrylamide gel electrophoresis followed by sodium dodecyl sulfate gradient polyacrylamide gel electrophoresis for the study of the dimer to monomer transition of human transthyretin.
12874414 2003 Transthyretin Val122Ile, accumulated Abeta, and inclusion-body myositis aspects in cultured muscle.
12820260 2003 Benzoxazoles as transthyretin amyloid fibril inhibitors: synthesis, evaluation, and mechanism of action.
12771253 2003 Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.
12697331 2003 Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12593674 2003 A new method for purification of human plasma retinol-binding protein and transthyretin.
12566023 2003 Vitreous opacities and outcome of vitreous surgery in patients with familial amyloidotic polyneuropathy.
12560553 2003 Prevention of transthyretin amyloid disease by changing protein misfolding energetics.
12557757 2002 A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis.
12481032 2002 Molecular conformation of a peptide fragment of transthyretin in an amyloid fibril.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12433265 2002 Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form.
12403615 2002 Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro.
12354101 2002 Naso-maxillary deformity due to frontonasal expression of human transthyretin gene in transgenic mice.
12095258 2002 Native state hydrogen exchange study of suppressor and pathogenic variants of transthyretin.
12050338 2002 Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.
11995997 2001 Structural basis of negative cooperativity in transthyretin.
11866053 2002 Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.
11853533 2002 The transfer of transthyretin and receptor-binding properties from the plasma retinol-binding protein to the epididymal retinoic acid-binding protein.
11709003 2001 A case of familial amyloid polyneuropathy homozygous for the transthyretin Val30Met gene with motor-dominant sensorimotor polyneuropathy and unusual sural nerve pathological findings.
11577236 2001 Trans-suppression of misfolding in an amyloid disease.
11560492 2001 An engineered transthyretin monomer that is nonamyloidogenic, unless it is partially denatured.
11478875 2001 Identification of a subunit interface in transthyretin amyloid fibrils: evidence for self-assembly from oligomeric building blocks.
11445644 2001 Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu).
11418763 2001 Structure of a new polymorphic monoclinic form of human transthyretin at 3 A resolution reveals a mixed complex between unliganded and T4-bound tetramers of TTR.
11243784 2001 Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution.
10986125 2000 A comparative analysis of 23 structures of the amyloidogenic protein transthyretin.
10982792 2000 Evidence for the role of megalin in renal uptake of transthyretin.
10882995 2000 New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.
10854215 2000 4'-Iodo-4'-deoxydoxorubicin disrupts the fibrillar structure of transthyretin amyloid.
10845569 2000 Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.
10842718 2000 Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser.
10842705 2000 A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy.
10841549 2000 The preaggregated state of an amyloidogenic protein: hydrostatic pressure converts native transthyretin into the amyloidogenic state.
10742177 2000 Rational design of potent human transthyretin amyloid disease inhibitors.
10704770 2000 Transthyretin binds amyloid beta peptides, Abeta1-42 and Abeta1-40 to form complex in the autopsied human kidney - possible role of transthyretin for abeta sequestration.
10694917 1998 Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online.
10671063 1998 A new nonamyloid transthyretin variant, G101S, detected by electrospray ionization/mass spectrometry. Mutations in brief no. 201. Online.
10627502 2000 Transthyretin in high density lipoproteins: association with apolipoprotein A-I.
10627135 1998 New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online.
10611950 1999 Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy.
10529370 1999 A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels.
10465115 1999 Two pairs of proven monozygotic twins discordant for familial amyloid neuropathy (FAP) TTR Met 30.
10439117 1999 A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.
10436378 1999 Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay.
10328977 1999 Transthyretin localization in cultured and native human retinal pigment epithelium.
10211412 1999 A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.
10071047 1999 Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis.
10052934 1999 The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP.
10036587 1998 A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.
9818883 1998 Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.
9818054 1998 Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation.
9789022 1998 Inhibiting transthyretin conformational changes that lead to amyloid fibril formation.
9771681 1998 Is there a familial carpal tunnel syndrome? An evaluation and literature review.
9771673 1998 Transthyretin Tyr77 familial amyloid polyneuropathy: a clinicopathological study of a large kindred.
9733771 1998 The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils.
9605286 1998 Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.
9307034 1997 Binding of perlecan to transthyretin in vitro.
9191784 1997 A trinucleotide deletion in the transthyretin gene (delta V 122) in a kindred with familial amyloidotic polyneuropathy.
9066351 1997 Transthyretin amyloidosis: a new mutation associated with dementia.
8990019 1997 Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis.
8960746 1996 Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)
8857732 1996 Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene.
8784093 1996 A new family with hyperthyroxinemia caused by transthyretin Val109 misdiagnosed as thyrotoxicosis and resistance to thyroid hormone--a clinical research center study.
8692810 1996 A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis.
8579098 1996 Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G)
8549676 1996 Retinol binding protein and transthyretin are secreted as a complex formed in the endoplasmic reticulum in HepG2 human hepatocarcinoma cells.
8428915 1993 The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution.
8406434 1993 Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues.
8382610 1993 Structure of Met30 variant of transthyretin and its amyloidogenic implications.
8352764 1993 A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.
8309582 1994 Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant.
8257997 1993 Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy.
8218290 1993 Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity.
8133316 1994 Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).
8095302 1993 A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.
8095301 1993 A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.
8089102 1994 The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein.
8081397 1994 Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis.
8038017 1993 Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant.
8019560 1994 A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy.
7946531 1994 Transthyretin (prealbumin) in health and disease: nutritional implications.
7923855 1994 Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis.
7914929 1994 Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).
7910950 1994 Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro).
7850982 1995 A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family.
7839813 1994 Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.
7794243 1995 Change in variant transthyretin levels in patients with familial amyloidotic polyneuropathy type I following liver transplantation.
7754382 1995 Structure of a complex of two plasma proteins: transthyretin and retinol-binding protein.
7655883 1995 Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.
7599630 1995 Transthyretin mutations in health and disease.
7474944 1995 Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis.
7417777 1980 Familial oculoleptomeningeal amyloidosis.
7033114 1981 Senile cardiac amyloid: evidence that fibrils contain a protein immunologically related to prealbumin.
6651852 1983 Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).
6583672 1984 Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.
6549130 1984 Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques.
6487335 1984 Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.
6300852 1983 Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.
6208668 1983 Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy.
6093805 1984 Cloning and sequence analysis of cDNA for human prealbumin.
6087811 1984 Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type).
4952599 1967 Primary familial amyloidosis.
4607556 1974 The amino acid sequence of human plasma prealbumin.
4328329 1971 Familial amyloid polyneuropathy: an electron microscope study of the peripheral nerve in five cases. I. Interstitial changes.
4216640 1974 Strjcture of human plasma prealbumin at 2-5 A resolution. A preliminary report on the polypeptide chain conformation, quaternary structure and thyroxine binding.
4054629 1985 Structure of the chromosomal gene for human serum prealbumin.
4044580 1985 Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat.
3818577 1986 Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy.
3762958 1986 Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy.
3760189 1986 Characterization of a transthyretin (prealbumin) variant associated with familial amyloidotic polyneuropathy type II (Indiana/Swiss).
3722385 1986 Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis.
3714052 1986 Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award.
3675594 1987 Identification and characterization of a human transthyretin variant.
3479441 1987 Molecular analysis of a variant type of familial amyloidotic polyneuropathy showing cerebellar ataxia and pyramidal tract signs.
3229002 1988 Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.
3135807 1988 Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin.
3028932 1987 Assignment of the prealbumin (PALB) gene (familial amyloidotic polyneuropathy) to human chromosome region 18q11.2-q12.1.
3022108 1986 Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy.
3022107 1986 Structure of the mutant prealbumin gene responsible for familial amyloidotic polyneuropathy.
3011930 1986 Presence of a plasma transthyretin (prealbumin) variant in familial amyloidotic polyneuropathy in a kindred of Greek origin.
2995367 1985 Structure of the human prealbumin gene.
2990465 1985 Localization of the human prealbumin gene to chromosome 18.
2891727 1988 Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis.
2877582 1986 Molecular detection of carriers of hereditary amyloidosis in a Swedish-American family.
2693890 1989 Human transthyretin (prealbumin) gene and molecular genetics of familial amyloidotic polyneuropathy.
2613237 1989 Direct sequencing of the gene for Maryland/German familial amyloidotic polyneuropathy type II and genotyping by allele-specific enzymatic amplification.
2363717 1990 Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg).
2360796 1990 Diagnosis of Maryland/German familial amyloidotic polyneuropathy using allele-specific, enzymatically amplified, genomic DNA.
2320592 1990 Fibril in senile systemic amyloidosis is derived from normal transthyretin.
2174830 1990 Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.
2161654 1990 A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases.
2122246 1990 Familial amyloid polyneuropathy: alanine-for-threonine substitution in the transthyretin (prealbumin) molecule.
2046936 1991 Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
2015890 1991 The transthyretin cDNA sequence is normal in transthyretin-derived senile systemic amyloidosis.
1997217 1991 A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.
1981182 1990 Diagnosis of familial amyloidotic polyneuropathy in France.
1979335 1990 A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia.
1977686 1990 Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.
1932142 1991 A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy.
1877623 1991 Biochemical and clinical characterization of prealbuminCHICAGO: an apparently benign variant of serum prealbumin (transthyretin) discovered with high-resolution two-dimensional electrophoresis.
1867256 1991 Prenatal diagnosis of hereditary amyloidosis in a Portuguese family.
1734866 1992 A novel transthyretin mutation associated with familial amyloidotic polyneuropathy.
1666289 1991 Transthyretin (prealbumin) gene in human primary hepatic cancer.
1656975 1991 New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis.
1626570 1992 A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers.
1602151 1992 Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin.
1570831 1992 A new transthyretin mutation associated with amyloid cardiomyopathy.
1544214 1992 Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.
1520336 1992 Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis.
1520326 1992 A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.
1517749 1992 Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy.
1436517 1992 Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70.
1362222 1992 A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy.
1356051 1992 A novel variant of transthyretin (prealbumin), Thr119 to Met, associated with increased thyroxine binding.
1351039 1992 Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.
1301926 1992 Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
986177 1976 The interaction between retinol-binding proteins and prealbumins studied by fluorescence polarization.
671542 1978 Structure of prealbumin: secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A.
574085 1979 Interaction between prealbumin and retinol-binding protein studied by affinity chromatography, gel filtration and two-phase partition.
201845 1977 Protein-DNA and protein-hormone interactions in prealbumin: a model of the thyroid hormone nuclear receptor?