Results 81 to 90 of about 2,890 (187)
Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver
JCI InsightGlycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) deficiency. Reduced GDE activity leads to pathological glycogen accumulation responsible for impaired hepatic metabolism and muscle weakness.
Louisa Jauze +25 more
doaj +1 more source
UEG Week 2025 DDM Summit Presentations
United European Gastroenterology Journal, Volume 13, Issue S8, Page S1477-S1538, October 2025.
wiley +1 more source
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. [PDF]
, 1996 Jianjun Shen +5 more
openalex +1 more source
Glycogen storage disease type III: a mixed-methods study to assess the burden of disease
Therapeutic Advances in Endocrinology and MetabolismBackground: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency. Objectives: The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III ...
Ayla Evins +7 more
doaj +1 more source
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions [PDF]
, 2009 Alan Cheng +4 more
openalex +1 more source
Structure and activity of the human glycogen debranching enzyme
The human glycogen debranching enzyme (GDE) is central in the degradation of glycogen, the storage of glucose in biological organisms. While glycogen phosphorylase partially degrades glycogen particles, GDE acts as a bifunctional protein with 4-⍺-glucanotransferase and amylo-⍺-1,6-glucosidase activities, catalysing the removal of the ⍺(1-6)-linked ...
openaire +1 more source