Uri Sprecher
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View article: Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status
Characterization of fission and fusion mitochondrial dynamics in HD fibroblasts according to patient's severity status Open
Huntington's Disease (HD) is an inheritable neurodegenerative condition caused by an expanded CAG trinucleotide repeat in the HTT gene with a direct correlation between CAG repeats expansion and disease severity with earlier onset-of- dise…
View article: The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis
The Autophagic Activator GHF-201 Can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis Open
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side ch…
View article: The Autophagic Activator GHF-201 can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis
The Autophagic Activator GHF-201 can Alleviate Pathology in a Mouse Model and in Patient Fibroblasts of Type III Glycogenosis Open
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded by Agl, enabling glycogen degradation by catalyzing alpha-1,4-oligosaccharide side ch…
View article: Disease-associated programming of cell memory in glycogen storage disorder type 1a
Disease-associated programming of cell memory in glycogen storage disorder type 1a Open
Summary Glycogen storage disorder type 1a (GSD1a) is caused by loss-of-function mutations in the catalytic subunit of glucose-6-phosphatase enzyme ( G6PC1 ) in the liver, kidney and intestine exclusively. Here we show the surprising result…
View article: Perturbed actin cap as a new personalized biomarker in primary fibroblasts of Huntington’s disease patients
Perturbed actin cap as a new personalized biomarker in primary fibroblasts of Huntington’s disease patients Open
Primary fibroblasts from patient’s skin biopsies are directly isolated without any alteration in the genome, retaining in culture conditions their endogenous cellular characteristics and biochemical properties. The aim of this study was to…
View article: A new drug candidates for glycogen storage disorders enhances glycogen catabolism: Lessons from Adult Polyglucosan Body Disease models
A new drug candidates for glycogen storage disorders enhances glycogen catabolism: Lessons from Adult Polyglucosan Body Disease models Open
This work employs Adult Polyglucosan Body Disease (APBD) models to explore the efficacy and mechanism of action of 144DG11, a new polyglucosan-reducing lead compound discovered by a high-throughput screen (HTS). APBD is an adult onset glyc…