Characterization of the human lysosomal alpha-glucosidase gene - Wikidata - awgldk - TriplyDB

Characterization of the human lysosomal alpha-glucosidase gene

Characterization of the human lysosomal alpha-glucosidase gene

http://www.wikidata.org/entity/Q24529537

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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B Detection of Active Mammalian GH31 α-Glucosidases in Health and Disease Using In-Class, Broad-Spectrum Activity-Based Probes.Genomic structure of human lysosomal glycosylasparaginase Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease Impaired performance of skeletal muscle in alpha-glucosidase knockout mice Glycogenosis type II (acid maltase deficiency)Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.Pompe disease: from pathophysiology to therapy and back again Molecular genetics of late onset glycogen storage disease II in Italy.Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.Enzyme therapy for Pompe disease: from science to industrial enterprise.Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation 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.Glycogen storage disease types I and II: treatment updates.Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression Enzyme replacement therapy for Pompe disease.Enzymatic and molecular strategies to diagnose Pompe disease.Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1.Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA).Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase.Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.Heterogeneity of pig lysosomal acid alpha-glucosidase. Affinity to Sephacryl S-200 gel and tissue distribution.Sequence of the complete cDNA and the 5' structure of the human sucrase-isomaltase gene. Possible homology with a yeast glucoamylase.Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.Evolutionary history of eukaryotic α-glucosidases from the α-amylase family.Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Expression and regulation of the human and mouse aspartylglucosaminidase gene.Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II Genotype-phenotype correlation in adult-onset acid maltase deficiency

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P2860

Characterization of the human lysosomal alpha-glucosidase gene

http://www.wikidata.org/entity/Q24529537

description

1990 nî lūn-bûn

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1990 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1990 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1990年の論文

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1990年論文

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1990年論文

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1990年論文

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1990年論文

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1990年論文

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1990年论文

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name

Characterization of the human lysosomal alpha-glucosidase gene

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Characterization of the human lysosomal alpha-glucosidase gene

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Characterization of the human lysosomal alpha-glucosidase gene

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Characterization of the human lysosomal alpha-glucosidase gene

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type

label

Characterization of the human lysosomal alpha-glucosidase gene

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Characterization of the human lysosomal alpha-glucosidase gene

@en

Characterization of the human lysosomal alpha-glucosidase gene

@en-gb

Characterization of the human lysosomal alpha-glucosidase gene

@nl

prefLabel

Characterization of the human lysosomal alpha-glucosidase gene

@ast

Characterization of the human lysosomal alpha-glucosidase gene

@en

Characterization of the human lysosomal alpha-glucosidase gene

@en-gb

Characterization of the human lysosomal alpha-glucosidase gene

@nl

P1433

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Biochemical Journal

P1476

Characterization of the human lysosomal alpha-glucosidase gene

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P2093

A J Reuser

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B A Oostra

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L H Hoefsloot

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M Hoogeveen-Westerveld

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P2860

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes

Rapid detection of octamer binding proteins with 'mini-extracts', prepared from a small number of cells

Recombinant genomes which express chloramphenicol acetyltransferase in mammalian cells

Efficient in vitro synthesis of biologically active RNA and RNA hybridization probes from plasmids containing a bacteriophage SP6 promoter

CpG islands in vertebrate genomes

Organization and expression of eucaryotic split genes coding for proteins

A simple salting out procedure for extracting DNA from human nucleated cells

Transcriptional regulation in mammalian cells by sequence-specific DNA binding proteins

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493-7

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scholarly article

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2066412

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10.1042/BJ2720493

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2

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20888348

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2268276

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1149727

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