The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.
Glycogen storage disease type I
glycogen storage disease type Ia
Disease Models, Animal
Enhancer Elements, Genetic
Gene Expression Regulation
Glycogen Storage Disease Type I
Promoter Regions, Genetic
Articles written by Duke faculty are made available through the campus open access policy. For more information see: Duke Open Access Policy
Rights for Collection: Scholarly Articles
Works are deposited here by their authors, and represent their research and opinions, not that of Duke University. Some materials and descriptions may include offensive content. More info
Showing items related by title, author, creator, and subject.
Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia. Brooks, Elizabeth Drake; Little, Dianne; Arumugam, Ramamani; Sun, Baodong; Curtis, Sarah; Demaster, Amanda; Maranzano, Michael; ... (11 authors) (Molecular Genetics and Metabolism, 2013-06)Glycogen Storage Disease type Ia (GSD-Ia) in humans frequently causes delayed bone maturation, decrease in final adult height, and decreased growth velocity. This study evaluates the pathogenesis of growth failure and the ...
Arnson, Benjamin Donald (2023)Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive metabolicdisorder caused deficiency of glucose-6-phosphatase (G6Pase) resulting from pathogenic variants in the G6PC gene. G6Pase catalyzes the hydrolysis ...
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III. Hijazi, Ghada; Paschall, Anna; Young, Sarah P; Smith, Brian; Case, Laura E; Boggs, Tracy; Amarasekara, Sathya; ... (13 authors) (Molecular genetics and metabolism reports, 2021-12)<h4>Introduction</h4>A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or ...