LEUKOCYTE DEBRANCHING ENZYME IN GLYCOGEN STORAGE DISEASE
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چکیده
منابع مشابه
Leukocyte Debranching Enzyme in Glycogen Storage
In recent years the classification of glycogen storage disease has been based on the demonstration of a specific enzyme defect for each type (14). Type I, glycogenosis or von Gierke's disease, results from the lack of glucose 6-phosphatase (1). Type II, or Pompe's disease, is characterized clinically by the severity of the disease with cardiovascular complications causing death usually before t...
متن کاملPolymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
Glycogen storage disease type III (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. We identified three polymorphic markers in the GDE gene using single strand conformation polymorphism (SSCP) analysis and DNA sequencing. They were -10G/A in the 5' non-translated region of exon 3,2001 + 8C/T in intron 16, and 3199C/T (P1067S) in exon 2...
متن کاملDistinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Glycogen storage disease type III (GSDIII) is a metabolic disorder characterized by a deficiency in the glycogen debranching enzyme, amylo-1,6-glucosidase,4-alpha-glucanotransferase (AGL). Patients with GSDIII commonly exhibit hypoglycemia, along with variable organ dysfunction of the liver, muscle or heart tissues. The AGL protein binds to glycogen through its C-terminal region, and possesses ...
متن کاملMutations 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.
Glycogen storage disease type HI (GSD-III), an autosomal recessive disease, is caused by deficient glycogen debranching enzyme (GDE) activity. Most GSD-III patients are GDE deficient in both liver and muscle (type IIIa), and some GSD-III patients have GDE absent in liver but retained in muscle (type IIIb). The molecular basis for this enzymatic variability is largely unknown. In the present stu...
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Phthalate esters are commonly used plasticizers; however, some are suspected to cause reproductive toxicity. Administration of high doses of di-(2-ethylhexyl) phthalate (DEHP) induces germ cell death in male rodents. Mono-(2-ethylhexyl) phthalate (MEHP), a hydrolyzed metabolite of DEHP, appears to be responsible for this testicular toxicity; however, the underlying mechanism of this chemical's ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1963
ISSN: 0021-9738
DOI: 10.1172/jci104756