A5025219920- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Pancreatic function and diabetes
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Nuclear Structure and Function
- Metabolism, Diabetes, and Cancer
- Medical Imaging Techniques and Applications
- Metabolism and Genetic Disorders
- Biomedical Research and Pathophysiology
- Biochemical and Molecular Research
- Epigenetics and DNA Methylation
- Genetic Syndromes and Imprinting
Tel Aviv University
2021-2025
Article6 September 2021Open Access Source DataTransparent process Alleviation of a polyglucosan storage disorder by enhancement autophagic glycogen catabolism Or Kakhlon Corresponding Author [email protected] orcid.org/0000-0001-7435-6454 Department Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel Search for more papers this author Hilla Vaknin orcid.org/0000-0001-9101-1423 Laboratory Neurodegenerative Diseases and Personalized Medicine, The Cell Screening Facility...
Primary fibroblasts from patient’s skin biopsies are directly isolated without any alteration in the genome, retaining culture conditions their endogenous cellular characteristics and biochemical properties. The aim of this study was to identify a distinctive cell phenotype for potential drug evaluation Huntington’s Disease (HD) patients, using image-based high content analysis. We show that HD have nuclear morphology associated with actin cap deficiency. This turn affects motility similar...
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded Agl, enabling degradation catalyzing alpha-1,4-oligosaccharide side chain transfer and alpha-1,6-glucose cleavage. GDE causes accumulation phosphorylase-limited dextrin, leading to liver disorder followed fatal myopathy. We tested here capacity new autophagosomal activator GHF-201 alleviate burden clearing pathogenic surcharge in GSDIII...
Glycogen storage disease type III (GSDIII) is a hereditary glycogenosis caused by deficiency of the glycogen debranching enzyme (GDE), an enzyme, encoded Agl, enabling degradation catalyzing alpha-1,4-oligosaccharide side chain transfer and alpha-1,6-glucose cleavage. GDE causes accumulation phosphorylase-limited dextrin, leading to liver disorder followed fatal myopathy. Here, we tested capacity new autophagosomal activator GHF-201 alleviate burden clearing pathogenic surcharge in GSDIII...
Summary Glycogen storage disorder type 1a (GSD1a) is caused by loss-of-function mutations in the catalytic subunit of glucose-6-phosphatase enzyme ( G6PC1 ) liver, kidney and intestine exclusively. Here we show surprising results that while not expressing , primary skin fibroblasts isolated from GSD1a patients’ biopsies preserve a distinctive disease phenotype irrespective different culture conditions under which they grow. This discovery was initially made phenotypic image-based high...
Abstract This work employs Adult Polyglucosan Body Disease (APBD) models to explore the efficacy and mechanism of action 144DG11, a new polyglucosan-reducing lead compound discovered by high-throughput screen (HTS). APBD is an adult onset glycogen storage disorder (GSD) manifesting as debilitating progressive axonopathic leukodystrophy. caused branching enzyme (GBE) deficiency leading poorly branched insoluble inclusions, which precipitate neuropathogenic polyglucosans (PG). 144DG11 led...