Property Summary

NCBI Gene PubMed Count 106
PubMed Score 1113.91
PubTator Score 664.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.100 1.0e-05
glioblastoma 1.100 1.7e-03
tuberculosis 1.300 4.1e-07
breast carcinoma 1.600 3.9e-03
adult high grade glioma 1.100 2.2e-03
pilocytic astrocytoma 1.100 6.1e-07
ovarian cancer 1.100 4.6e-06

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
1466 confirmatory 10 / 15795 / 183498 qHTS Assay for Inhibitors of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease
1473 summary 1 / 3 / 1 Quantitative High-Throughput Screen for Inhibitors and Activators of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease: Summary
2100 confirmatory 1169 / 9356 / 293744 qHTS Assay for Inhibitors and Activators of Human alpha-Glucosidase Cleavage of Glycogen
2110 confirmatory 57 / 11 / 41 Confirmation of Inhibitors and Activators of Purified Human alpha-Glucosidase Using an Alternate Red Fluorescent Susbtrate
2111 confirmatory 58 / 1 / 39 Confirmation of Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate Using an Alternate Red Fluorescent Susbtrate
2112 confirmatory 16 / 971 / 235761 qHTS Assay for Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate
2113 confirmatory 57 / 32 / 334 Confirmation of Inhibitors and Activators of Human alpha-Glucosidase From Spleen Homogenate
2115 confirmatory 19 / 13 / 306 Confirmation of Inhibitors and Activators of Purified Human alpha-Glucosidase
2242 confirmatory 715 / 15090 / 183498 qHTS Assay for Activators of Human alpha-Glucosidase as a Potential Chaperone Treatment of Pompe Disease
2293 other 1 / 0 / 0 Direct Measure of the Activation of Acid alpha-Glucosidase Catalytic Rate
More...

Gene RIF (85)

PMID Text
26580301 Compared with controls, GAA gene expression levels in coronary artery disease (CAD) patients were significantly increased, suggesting that GAA may be involved in the CAD development.
26575883 glycogen storage disease type II is caused by deficiency of GAA activity resulting from mutation of GAA gene
26231297 Study reports on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patients from five unrelated families with the c.-32-13T>G GAA gene mutation in homozygous state. All patients had decreased GAA activity and elevated creatine kinase levels.
25681614 this study shows several alterations distributed along the GAA gene in a sample of Brazilian families.
25526786 Findings indicate that GAA c.2238G > C (p.W746C) novel mutation is the most common mutation in mainland Chinese late-onset Pompe patients, as observed in Taiwanese patients expanding the genetic spectrum of the disease.
25243733 RT-PCR followed by DNA sequence analysis of patients with Pompe disease revealed new variant in GAA gene resulting in aberrant splicing event.
25231351 GAA deficiency results in reduced mTORC1 activation that is partly responsible for the skeletal muscle wasting phenotype and can be amerliorated by leucine supplementation.
25026126 Mutations in acid alpha-glucosidase gene is associated with Pompe disease.
24399866 study describes two unrelated cases affected with classical early-onset Pompe disease, both pertaining to the same small Mexican region, with the same novel homozygous frameshift mutation at gene GAA (c.1987delC)
24384324 7 of 27 in: Gene. 2014 Mar 1;537(1) Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
24158270 The phenotype LO-GSDII with GAA mutation in the North of Italy seems not significantly different from other LO-GSDII populations in Europe or the USA.
24150945 This study demonstrates that the c.-32-13T>G mutation of GAA gene abrogates the binding of the splicing factor U2AF65 to the polypyrimidine tract of exon 2 and that several splicing factors affect exon 2 inclusion.
24107549 Data shows the largest informative family with late-onset Pompe disease described in the literature showing a peculiar complex set of mutations of GAA gene that may partially elucidate the clinical heterogeneity of this family.
23884227 Mutations in the GAA gene is associated with glycogen storage disease type II.
23000108 Adult patients with alpha-glucosidase mutations other than c.-32-13 T>G can have very low alpha-glucosidase activity in fibroblasts but express higher activity in muscle and store less glycogen in muscle than patients with infantile Pompe disease.
22658377 Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
22644586 Study gave an update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
21982629 we define a critical role for endoplasmic reticulum stress in the activation of autophagy due to the 546G>T acid alpha glucosidase mutation
21484825 No common mutation is found in association with low levels of acid alpha-glucosidase activity in late-onset Pompe disease; most patients produce unprocessed forms of GAA protein compared with patients who have higher GAA activity.
21039225 Mutation analysis of the GAA gene revealed the p.D645E in all patients with Pompe disease, suggesting it as the most common mutation in the Thai population.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20350966 The enzymatic screening of Pompe disease can be justified in patients with myopathies of unknown etiology in this report of a Mexican patient with late-onset glycogen-storage disease type 2.
20080426 Observational study of genetic testing. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19834502 Data show that p.R1147G missense mutation impaired glucosidase activity.
19609281 Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
19362502 c.[1726A; 2065A] homozygosity among apparently healthy individuals complicates newborn screening for glycogen storage disease type II in Japan and one or more pathogenic mutations are associated with the c.[1726A; 2065A] allele.
19343043 Mutation in alpha-glucosidases results in processing/transport defect in Pompe disease.
18757064 Observational study of gene-disease association. (HuGE Navigator)
18607768 Report genetic testing to indentify GAA mutations in German patients with late-onset glycogen storage disease type II.
18458862 We performed a molecular genetic study on 29 patients with infantile-onset glycogen-storage disease type II (GSDII), 6 with juvenile-onset GSDII and one carrier for GSDII. Seventeen different mutations were identified among them; 8 were novel mutations.
18458862 Observational study of gene-disease association. (HuGE Navigator)
18429042 Study characterized 29 unrelated Itatlian infant patients presenting with the severe form of Pompe disease and identified 26 pathogenic mutations divided over 28 different genotypes in GAA.
18425781 The clinical heterogeneity of Pompe disease is explained by the kind and severity of mutations in the GAA gene with 107 sequence variations (95 being novel) discovered; but secondary factors, as yet unknown, have a substantial impact.
18330979 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
18314154 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
18301443 Polymorphism in acid alpha-glucosidase is associated with Pompe disease
18285536 In Glycogen Storage Disease Type II suggesting a loss alpha-Glucosidase of function rather than abnormal protein processing and expression
18215327 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
17915575 Despite a common genotype, patients present with a wide variability in residual enzyme activity, age of appearance of clinical signs and rate of disease progression suggesting other factors in Pompe disease.
17616415 Mutations in glucosidase alpha is asspciated with glycogen storage disease type II
17592248 The role of autophagy in Pompe disease was examined by analyzing single muscle fibers.
17293352 N-glycans of recombinant human GAA were expressed in the milk of transgenic rabbits.
17213836 demonstrated a significant increase of GAA activity (1.3-7.5-fold) after imino sugar treatment in fibroblasts from patients carrying the mutations L552P (three patients) and G549R (one patient)
17210890 Patients with the same c.-32-13T-->G haplotype (c.q. GAA genotype) may manifest first symptoms at different ages, indicating that secondary factors may substantially influence the clinical course of patients with this mutation.
17092519 Two new missense mutations (p.266Pro>Ser and p.439Met>Lys) were new missense mutations causing late onset GSD II.
17056254 From 14 Argentinean patients diagnosed with either infantile or late-onset disease, we identified 14 distinct mutations in the acid alpha-glucosidase (GAA) gene including nine novel variants.
16917947 Complete molecular analysis of the GAA gene of patients with late onset glycogen storage disease type II shows missense mutations and splicing mutations.
16547752 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
15993875 Acid-alpha-glucosidase activity and specific activity, and lysosomal glycogen content are useful predictors of age of onset in Pompe disease
15668445 2 novel mutations (Ala237Val and Gly293Arg) were foundin the acid alpha-glucosidase gene in a Pompe disease patient with vascular involvement.
15520017 data show that the mature forms of GAA characterized by polypeptides of 76 or 70 kDa are in fact larger molecular mass multicomponent enzyme complexes; peptides released during proteolytic processing remained tightly associated with the major species
15313146 Observational study of genetic testing. (HuGE Navigator)
15145338 Childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
12923862 mutations in the alpha glucosidase gene is associated with infantile onset glycogen storage disease type II.
12719582 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
12601120 2 novel mutations of the acid alpha-glucosidase gene, P361L and R437C, were found in a juvenile-onset glycogen storage disease type II (GSDII) 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also compound heterozygote
12560567 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
12065598 novel target of the Notch-1/Hes-1 signaling pathway
11854868 Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II
11752220 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
11530211 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
9109416 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8794362 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8794361 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8673525 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8416962 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8218172 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
8093218 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
3264072 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
3099781 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2959866 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2829950 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2825177 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2649653 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2542563 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2541446 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2355006 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2283726 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2187500 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2136376 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
2076345 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
1736542 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
1704656 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus
1678778 Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus

AA Sequence

MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGASRPGPRDAQA      1 - 70
HPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLEN     71 - 140
LSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYS    141 - 210
VEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWN    211 - 280
RDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSV    281 - 350
VQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG    351 - 420
FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDF    421 - 490
TNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICAS    491 - 560
SHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPE    561 - 630
ILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALT    631 - 700
LRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLG    701 - 770
TWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP    771 - 840
MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVA    841 - 910
TAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC                                911 - 952
//

Text Mined References (116)

PMID Year Title
26580301 2016 Altered expression of lysosomal hydrolase, acid ?-glucosidase, gene in coronary artery disease.
26575883 2015 [Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25681614 2015 Novel GAA mutations in patients with Pompe disease.
25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
25243733 2015 Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
25231351 2014 Suppression of mTORC1 activation in acid-?-glucosidase-deficient cells and mice is ameliorated by leucine supplementation.
25183957 2014 Pompe disease: from pathophysiology to therapy and back again.
25026126 2014 Two novel mutations in acid ?-glucosidase gene in two patients with Pompe disease.
24399866 2013 A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease.
24384324 2014 Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24158270 2014 Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
24150945 2014 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
23884227 2013 Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23000108 2012 Remarkably low fibroblast acid ?-glucosidase activity in three adults with Pompe disease.
22676651 2012 A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
22658377 2012 Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
22644586 2012 Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
21982629 2011 Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
21484825 2011 Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid ?-glucosidase activity.
21269460 2011 Initial characterization of the human central proteome.
21109266 2011 Late form of Pompe disease with glycogen storage in peripheral nerves axons.
21039225 2010 p.D645E of acid ?-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.
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.
20350966 2010 Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
20080426 2010 Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19834502 2009 Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
19609281 2009 Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
19588081 2009 Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
19362502 2009 High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
19343043 2009 Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18757064 2008 Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
18607768 2008 Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
18429042 2008 Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
18425781 2008 Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
18301443 2008 p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
18285536 2008 Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
17915575 2007 Molecular genetics of late onset glycogen storage disease II in Italy.
17897319 2007 Integral and associated lysosomal membrane proteins.
17643989 2007 Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
17616415 Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
17592248 Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand...
17293352 2007 N-glycans of recombinant human acid alpha-glucosidase expressed in the milk of transgenic rabbits.
17213836 2007 Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
17210890 2007 Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
17092519 2006 Two new missense mutations of GAA in late onset glycogen storage disease type II.
17056254 2007 Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
16917947 2006 Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
16782080 2006 A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16433701 2006 Two clinical forms of glycogen-storage disease type II in two generations of the same family.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
15993875 2005 Correlation of acid alpha-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe disease.
15668445 2005 Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
15520017 2005 Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15313146 2004 Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
15145338 2004 A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
14972326 2004 Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
14695532 2004 Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
14643388 2003 New GAA mutations in Japanese patients with GSDII (Pompe disease).
12923862 2003 Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
12754519 2003 Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.
12601120 2003 Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12065598 2002 The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway.
11973631 2002 Adeno-associated virus-mediated transfer of human acid maltase gene results in a transient reduction of glycogen accumulation in muscle of Japanese quail with acid maltase deficiency.
11738358 2002 Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
11071489 2000 Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
11027569 2000 Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.
10931430 2000 Identification of two subtypes of infantile acid maltase deficiency.
10737124 1998 Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
10338092 1999 Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
10206684 1998 The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
10189220 1999 Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
9660056 1998 Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.
9554747 1998 Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
9535769 1998 Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
9521422 1998 Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
9505277 1998 Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
8935410 Molecular study on the infantile form of Pompe disease in Chinese in Taiwan.
8912788 1996 Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
8834250 1996 Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
8786092 1996 Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization.
8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
8486380 1993 The loss of a polymorphic glycosylation site caused by Thr-927-->Ile is linked to a second polymorphic Val-816-->Ile substitution in lysosomal alpha-glucosidase of American blacks.
8435067 1993 Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
8401535 1993 Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
8094613 1993 The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
7981676 1994 A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
7945303 1994 Deletion of exon 18 is a frequent mutation in glycogen storage disease type II.
7881425 1994 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
7881422 1994 The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
7866409 1994 Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
7717400 1995 Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
7695647 1995 Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
7603530 1995 Glycogenosis type II (acid maltase deficiency).
5264799 1970 Simultaneous absence of alpha-1,4-glucosidase and alpha-1,6-glucosidase activities (pH 4) in tissues of children with type II glycogen storage disease.
3049072 1988 Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
2268276 1990 Characterization of the human lysosomal alpha-glucosidase gene.
2203258 1990 Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
2111708 1990 Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences.
1898413 1991 Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II.
1856189 1991 Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
1684505 1991 Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
1652892 1991 Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.