Property Summary

NCBI Gene PubMed Count 150
PubMed Score 1391.19
PubTator Score 721.48

Knowledge Summary


No data available


  Disease (6)

Disease Target Count
Leukodystrophy, hypomyelinating, 1 1


  Differential Expression (17)

Disease log2 FC p
psoriasis -1.200 6.0e-05
cutaneous lupus erythematosus -1.800 4.0e-02
glioblastoma -2.200 3.5e-02
ependymoma -3.100 2.8e-06
group 3 medulloblastoma -6.400 9.2e-07
atypical teratoid/rhabdoid tumor -5.800 5.0e-09
medulloblastoma, large-cell -4.800 1.1e-04
Atopic dermatitis -1.300 1.4e-02
intraductal papillary-mucinous adenoma (... -1.800 2.6e-03
intraductal papillary-mucinous carcinoma... -1.700 4.7e-03
intraductal papillary-mucinous neoplasm ... -1.800 2.5e-02
colon cancer -4.700 4.3e-12
pediatric high grade glioma -2.400 2.2e-03
subependymal giant cell astrocytoma -5.813 1.9e-02
invasive ductal carcinoma -1.800 5.6e-04
lung carcinoma 1.800 4.8e-10
ductal carcinoma in situ -1.100 2.5e-02

Gene RIF (63)

26329556 Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
26311781 Myelin proteolipid protein is critical to regulating oligodendrocyte progenitor cell migration.
25930075 In major depressive disorder there was a significantly reduced expression of PLP1 mRNA.
25749076 Study investigated 17 unrelated Pelizaeus-Merzbacher disease subjects with copy number gains at the PLP1 locus including triplication and quadruplication of specific genomic intervals-16/17 were found to have a duplication-inverted triplication-duplication rearrangement product.
25491635 Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. We identified PLP1 mutations in seven male patients with PMD.
24890387 Data strongly suggest that a secondary structure within intron 3 is important for controlling regulation of the PLP1 alternative splice and that patient mutations can cause Pelizaeus-Merzbacher disease by disrupting this structure.
24857611 Data suggest transmembrane segment of PLP contains multiple helix-helix interaction motifs that play role in ability of PLP to form dimers/oligomers; alteration of local hydrophobicity affects both helix-helix interaction and segment alpha-helicity.
24519770 Our clinical and molecular findings showed that the phenotypic spectrum resulting from PLP1 mutations seems to be broader in patients with the PLP1 gene duplication compared to patients with both nonsense and missense mutation.
24103481 report a novel PLP1 missense mutation (c.88G>C) in a family from Argentina. This mutation is in a highly conserved transmembrane domain of PLP1 and the mutant protein was found to be retained in the endoplasmic reticulum when expressed in vitro
24019930 show that the presence of the c.436C>G mutation served to introduce regulatory motifs that appear to be responsible for the perturbed splicing pattern that led to loss of the major PLP transcript
23771846 PLP1 splicing mutations may result in a wide variety of disease phenotypes through a combination of multiple molecular pathogenic mechanisms.
23711321 this study provides new insight into the genotype-phenotype correlations of patients with PLP1 splice-site mutations.
23347225 Mutations found in the PLP1 gene are the cause of PMD in around 20% of the patients in this series.
23344956 PLP1 mutants inhibit Golgi apparatus to endoplasmic reticulum trafficking and have a role in pathogenesis of Pelizaeus-Merzbacher disease
22902553 In transfected cells, oligodendrocytes & brain, PLP exists as a monomer or a disulfide-linked dimer via Cys108. Isoform DM20 is usually a monomer. Mutants causing Pelizaeus-Merzbacher disease form disulfide-linked, high-MW aggregates.
22750001 expression of PLP1 in oligodendrocytes markedly inhibits their differentiation, and that this inhibitory effect is effectively improved by inhibition of extracellular signal-regulated kinase activity.
22695888 the underlying effect of the partial PLP1 duplication identified in this study was different from other PLP1 alterations including a typical duplication and a missense mutation.
22511562 The PLP1 gene has a more complex role in human brain development, exceeding its structural function in myelin formation.
22343157 A novel PLP1 mutation was found in a family presenting with X-linked recessive Hereditary Spastic Paraplegia.
21679407 study of patients with PLP1-related disorders; PLP1 gene duplications were identified in 24 of unrelated patients whereas a variety of intragenic PLP1 mutations were found in the remaining 14 patients; of the 14 different intragenic lesions, 11 were novel
21623770 data show that complex duplications involving PLP1 are not uncommon, can be detected at the level of genome resolution afforded by clinical aCGH and duplication and inversion can be produced in the same event.
21573057 Results prove for the first time the interaction of PLP and MAL2 in oligodendrocytic cells, supporting the transcytotic model of PLP transport previously suggested.
21177054 Data suggest that a defective disulfide bond in proteolipid protein 1 could be important in the pathogenesis of Pelizaeus-Merzbacher disease.
21127064 G Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site.
21082496 A patient with Pelizaeus-Merzbacher disease has duplication of all 7 exons of the PLP1 gene. This duplication was inherited from the patient's mother, who is an unaffected carrier of the mutation.
20885931 Inflammation in mammals with increased Plp1 gene dosage may also contribute to axonal degeneration described in patients and transgenic rodents with PLP1 increased gene dosage.
20629189 Central nervous system myelination is compromised by overexpression of proteolipid protein PLP/DM20 in a transgenic mouse model of Pelizaeus-Merzbacher disease.
20186781 report on a family of two young boys and their mother who share the same unusual 4-bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using MR imaging, are described.
20036320 These results suggest for the first time that PLP may have functions in humans not only in oligodendrocytes but also in neurons and could be implicated in axono-glial communication
19955111 PLP1 gene mutations cause hereditary spastic paraplegia.
19825935 A242V PLP1 mutant, which causes severe Pelizaeus-Merzbacher disease, was more stable and accumulated at the endoplasmic-reticulum.
19562355 The patterns of neuronal loss in Pelizaeus-Merzbacher disease appear to be dependent on the type of mutation (e.g. duplication, complete gene deletion, missense or exon-skipping) affecting proteolipid protein 1.
19396823 A missense mutation (p.D57Y) was found in the PLP1 gene; thus, it appears that the Arena syndrome is, in fact, Pelizaeus-Merzbacher disease.
19376225 PLP1 gene duplication seems to result both in overexpression and in a shift of the PLP/DM20 splicing balance in direction of the PLP isoform.
19328639 his study presented new mutation and variable sizes of duplications in patient with Pelizaeus-Merzbacher disease.
19244236 hnRNPH and F regulate DM20 splicing by recruiting U1snRNP and hnRNPH plays a primary role in DM20 splice site selection in vivo
19151366 Variable clinical expression of Pelizaeus-Merzbacher disease was seen in 5 members of a family bearing a novel missense mutation in proteolipid protein 1, c.619T>C.
19024090 genomic duplications and one missense mutation (p. P173S) of the PLP1 gene in eight Chinese patients with Pelizaeus-Merzbacher disease (PMD).
18604471 No association between the oligodendrocyte-related gene PLP1 and schizophrenia.
18555697 Transgenic mice overexpressing proteolipid protein develop a low-grade chronic inflammatory disease of the central nervous system white matter tracts with an increase in both CD8-positive T-lymphocytes and CD11b-positive macrophage-like cells.
18470932 Study found that various PLP1 mutations result in missplicing, including a missense in exon 2 and a nucleotide substitution in intron 3 outside the donor and acceptor splicing sites in Pelizaeus-Merzbacher disease and spastic paraplegia patients.
18437021 the duplication mutation of the PLP1 gene in patients with PMD results in a mild clinical form of the disorder that mimics the spastic quadriplegia of cerebral palsy
18190592 Five Pelizaeus-Merzbacher disease (PMD) male patients affected by the classic PMD form carrying a PLP1 gene duplication.
17962415 Covalent protein cross-links emerge as a cause, rather than as a consequence, of endoplasmic reticulum retention in Pelizaeus-Merzbacher disease.
17438221 This case raises questions about the role of inflammation in PLP1-related disorders and, conversely, PLP1 mutations in MS.
17420921 Observational study of gene-disease association. (HuGE Navigator)
17171701 Function of a novel mutagenized heptapeptide has significant impact on pathogenesis and provides new insight into the functions of the two splice isoforms encoded by the PLP1 gene.
16774974 PLP1 duplication may be stimulated by flanking low-copy repeats, possibly non-homologous pairs at both the proximal and distal breakpoints, and supports an alternative role of genomic architecture in rearrangements responsible for genomic disorders
16416265 Observational study of gene-disease association. (HuGE Navigator)
16380909 Genomic structures of X-chromosome segmental duplications of the PLP1 gene reveal highly variable distal breakpoints clustered around low-copy repeats. Such tandem duplications form by a coupled homologous and nonhomologous recombination mechanism.
16374829 Electrodiagnostic studies and a sural nerve biopsy showed features of a dystrophic axonal neuropathy. Molecular studies identified a small duplication downstream of PLP1.
16287154 The observed PLP1 and DM20 splicing patterns correlated well with predictions of information theory-based analysis, and that the relative strength of the PLP1 and DM20 donor splice sites plays an important role in PLP1 alternative splicing.
16130097 Sequencing of the proteolipid protein 1 gene showed a novel mutation, Leu30Arg (c.89TG) in primary progressive multiple sclerosis.
15837131 Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
15753308 premature oligomerization of PLP in the endoplasmic reticulum of oligodendrocytes contributes to the pathology of Pelizaeus-Merzbacher disease
15712223 17 new sequence variants resulting in truncation, AA substitution or splice consensus sequence changes were found. 7 are in the transmembrane domain and affect folding.
15694262 the genetic polymorphisms within PLP1 in male are likely to confer an increased susceptibility to schizophrenia in the Chinese population.
15627202 Mutations are associated with Pelizaeus-Merzbacher disease and spastic paraplegia type 2. (review)
15450775 A Korean boy diagnosed with SPG2 caused by a mutation that results in a Pro215Leu substitution in the second extracellular domain.
15009677 Decreased expression of a number of myelin-related genes, including myelin basic protein (MBP), proteolipid protein (PLP), and myelin-associated oligodendrocyte basic protein (MOBP) was noted in nucleus accumbens of cocaine abusers
12491939 a study of the mutations in Pelizaeus Merzbacher disease.
12325077 A PLP splicing abnormality is associated with an unusual presentation of PMD.
12297985 PLP1 deletions are likely caused by nonhomologous end joining

AA Sequence


Text Mined References (148)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26329556 2015 Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
26311781 2015 Myelin Proteolipid Protein Complexes with ?v Integrin and AMPA Receptors In Vivo and Regulates AMPA-Dependent Oligodendrocyte Progenitor Cell Migration through the Modulation of Cell-Surface GluR2 Expression.
25930075 2015 Oligodendrocyte morphometry and expression of myelin - Related mRNA in ventral prefrontal white matter in major depressive disorder.
25749076 2015 Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
25491635 2015 Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.
25416956 2014 A proteome-scale map of the human interactome network.
24890387 2014 PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
24857611 2014 Terminal residue hydrophobicity modulates transmembrane helix-helix interactions.
24519770 The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
24103481 2014 A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
24019930 2013 Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.
23771846 2014 Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
23711321 2014 Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
23347225 2013 PLP1 gene analysis in 88 patients with leukodystrophy.
23344956 2013 Depletion of molecular chaperones from the endoplasmic reticulum and fragmentation of the Golgi apparatus associated with pathogenesis in Pelizaeus-Merzbacher disease.
22926577 2012 Quantitative proteomic analysis of human substantia nigra in Alzheimer's disease, Huntington's disease and Multiple sclerosis.
22902553 2012 Proteolipid protein dimerization at cysteine 108: Implications for protein structure.
22750001 2012 Pelizaeus-Merzbacher disease-associated proteolipid protein 1 inhibits oligodendrocyte precursor cell differentiation via extracellular-signal regulated kinase signaling.
22695888 2012 Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication.
22511562 2012 Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
22343157 2012 A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
21679407 2011 Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.
21623770 2012 Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
21573057 2011 Interaction of PLP with GFP-MAL2 in the human oligodendroglial cell line HOG.
21177054 2011 A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease.
21127064 2011 G Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site.
21082496 PLP1 gene duplication as a cause of the classic form of Pelizaeus-Merzbacher disease - case report.
20885931 2010 Increased Plp1 gene expression leads to massive microglial cell activation and inflammation throughout the brain.
20629189 2010 PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease.
20186781 2010 Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.
20036320 2010 Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.
19955111 2010 Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'.
19825935 2009 Differences in endoplasmic-reticulum quality control determine the cellular response to disease-associated mutants of proteolipid protein.
19562355 2009 Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
19396823 2009 Arena syndrome is caused by a missense mutation in PLP1.
19376225 2009 PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.
19328639 2010 Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
19244236 2009 Heterogeneous nuclear ribonucleoproteins H and F regulate the proteolipid protein/DM20 ratio by recruiting U1 small nuclear ribonucleoprotein through a complex array of G runs.
19151366 2009 Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
19024090 2008 Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
18604471 2008 No association between the oligodendrocyte-related gene PLP1 and schizophrenia in the Japanese population.
18555697 2008 Origin of CD11b+ macrophage-like cells in the CNS of PLP-overexpressing mice: low influx of haematogenous macrophages and unchanged blood-brain-barrier in the optic nerve.
18470932 2008 PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
18437021 2008 Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.
18190592 2008 Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications.
17962415 2007 A common mechanism of PLP/DM20 misfolding causes cysteine-mediated endoplasmic reticulum retention in oligodendrocytes and Pelizaeus-Merzbacher disease.
17438221 2007 Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation.
17420921 2007 The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
17171701 2007 Novel alternatively spliced endoplasmic reticulum retention signal in the cytoplasmic loop of Proteolipid Protein-1.
16774974 2006 Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
16416265 2006 PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
16380909 2005 Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
16374829 2006 Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
16287154 2006 Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
15837131 2005 Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA.
15772651 2005 The DNA sequence of the human X chromosome.
15753308 2005 Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum.
15712223 2005 Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease.
15694262 2005 A family-based association study of PLP1 and schizophrenia.
15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15450775 2004 A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
15009677 2004 Gene expression profile of the nucleus accumbens of human cocaine abusers: evidence for dysregulation of myelin.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14572140 2003 Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
12805210 2003 Role of calnexin in the glycan-independent quality control of proteolipid protein.
12601703 2003 Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
12491939 2003 The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12325077 2002 A PLP splicing abnormality is associated with an unusual presentation of PMD.
12297985 2002 Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
12237860 2002 Myelin proteolipid protein, basic protein, the small isoform of myelin-associated glycoprotein, and p42MAPK are associated in the Triton X-100 extract of central nervous system myelin.
12196561 2002 Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11956232 2002 Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes: implications for Pelizaeus-Merzbacher disease.
11872612 2002 Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
11786921 2002 A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene.
11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.
11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
11071483 2000 Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
10878666 2000 X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
10827108 2000 Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.
10767322 2000 The proteolipid protein gene and myelin disorders in man and animal models.
10520936 1999 The molecular pathogenesis of Pelizaeus-Merzbacher disease.
10425042 1999 A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
10417279 1999 Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.
10319897 1999 Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
10203813 1999 Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.
9934976 1999 Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
9894878 1999 Pelizaeus-Merzbacher disease: three novel mutations and implication for locus heterogeneity.
9858696 1998 Human proteolipid protein (PLP) mediates winding and adhesion of phospholipid membranes but prevents their fusion.
9788732 1998 A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
9747038 1998 Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
9728768 1998 Cotranslational integration of myelin proteolipid protein (PLP) into the membrane of endoplasmic reticulum: analysis of topology by glycosylation scanning and protease domain protection assay.
9634530 1998 Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH.
9633722 1998 Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
9489796 1998 X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).
9482656 1998 Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
9247276 1997 Proteolipid protein is necessary in peripheral as well as central myelin.
9143933 1997 A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
9056547 1997 Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
9008538 1997 Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
8987820 1996 Monoclonal antibody O10 defines a conformationally sensitive cell-surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice.
8956049 1996 A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia.
8909455 1996 Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.
8786077 1996 A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
8765335 1996 Expression of the myelin proteolipid protein gene in the human fetal thymus.
8723686 1996 Pelizaeus-Merzbacher disease: a novel mutation in the 5'-untranslated region of the proteolipid protein gene.
8696336 1996 A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.
8659540 1996 A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.
8037216 1994 Comparison of statistics for candidate-gene association studies using cases and parents.
8012387 1994 X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
7684945 1993 Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene.
7684886 1993 Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred.
7683951 1993 A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
7679906 1993 A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease.
7574457 1995 Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
7573159 1995 Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.
7541731 1995 Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.
7539213 1995 In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
7531827 1995 A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
7522741 1994 The rumpshaker mutation in spastic paraplegia.
6201756 1984 Regional studies of myelin proteins in human brain and spinal cord.
6083474 1984 Interaction between human myelin basic protein and lipophilin.
4041237 1985 Amino-acid sequence of human and bovine brain myelin proteolipid protein (lipophilin) is completely conserved.
3840606 1985 Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders.
3827224 1987 Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
3768366 1986 The intramembranous domains of lipophilin in phosphatidylcholine vesicles are similar to those in the myelin membrane.
3467339 1986 Individual exons encode the integral membrane domains of human myelin proteolipid protein.
3457761 1986 The gene encoding for the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome.
2773936 1989 Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
2480601 1989 Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.
2467009 1989 Interaction of myelin basic protein and proteolipid protein.
2449536 1987 Expression of myelin proteins in the developing human spinal cord: cloning and sequencing of human proteolipid protein cDNA.
2441695 1987 Human myelin DM-20 proteolipid protein deletion defined by cDNA sequence.
1720927 1991 Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.
1715570 1991 Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
1711121 1991 Major Myelin proteolipid: the 4-alpha-helix topology.
1709135 1991 Correction of the published sequence for the human proteolipid protein gene.
1708672 1990 A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.
1707231 1991 A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
1384324 1992 Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis.
1376966 1992 Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease.
1376553 1992 New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.