Glycogen Debranching Enzyme System

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  Subject Areas on Research

  • A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. 
  • A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. 
  • A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. 
  • Assignment of the human glycogen debrancher gene to chromosome 1p21. 
  • Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa. 
  • Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. 
  • Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells. 
  • Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. 
  • Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. 
  • Glycogen debranching enzyme is associated with rat skeletal muscle sarcoplasmic reticulum. 
  • Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease. 
  • Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. 
  • Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. 
  • Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region. 
  • Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. 
  • Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. 
  • Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 
  • Molecular characterization of glycogen storage disease type III. 
  • Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme. 
  • Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. 
  • Mouse model of glycogen storage disease type III. 
  • Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 
  • Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa. 
  • Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 
  • Prenatal diagnosis in glycogen storage diseases. 
  • Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. 
  • Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.