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Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 255-269, March 2024.Abstract Glycogen storage disease type IV (GSD IV), also called Andersen disease, or amylopectinosis, is a highly heterogeneous autosomal recessive disorder caused by a glycogen branching enzyme (GBE, 1,4‐alpha‐glucan branching enzyme) deficiency secondary to pathogenic variants on GBE1 gene. The incidence is evaluated to 1:600 000 to 1:800 000 of live
Charles R. Lefèvre +11 more
wiley +1 more source
Targeted Protein Degradation for the Prevention of Pathological Glycogen Accumulation [PDF]
, 2023 A peculiar feature common to certain rare diseases and cancers is the overaccumulation of glycogen. Glycogen Storage Diseases (GSDs) are a group of rare genetic disorders defined by an overaccumulation of glycogen in various tissues that often proves ...
Israelian, John
core +1 more source
Rapid development of pseudo‐ground‐glass bodies in liver transplants
Histopathology, Volume 85, Issue 1, Page 190-192, July 2024.
Anne Kristin Fischer +7 more
wiley +1 more source
Cerebral Glycogen Distribution and Aging [PDF]
, 2021 In the brain, glycogen metabolism has been implied in synaptic plasticity and learning, yet the distribution of this molecule has not been fully described.
Ashida, Hitoshi +4 more
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Neuronal glycogen synthesis contributes to physiological aging [PDF]
, 2014 Glycogen is a branched polymer of glucose and the carbohydrate energy store for animal cells. In the brain, it is essentially found in glial cells, although it is also present in minute amounts in neurons. In humans, loss-of-function mutations in laforin
Blasco, Ester +12 more
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Glycogen Distribution in the Microwave-Fixed Mouse Brain Reveals Heterogeneous Astrocytic Patterns [PDF]
, 2016 In the brain, glycogen metabolism has been implied in synaptic plasticity and learning, yet the distribution of this molecule has not been fully described.
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GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2) [PDF]
, 2018 An 84-year-old lady with slowly progressive limb and axial muscle weakness with onset in her teens was referred for genetic investigations. Targeted next generation sequencing (NGS) revealed a homozygous mutation GYG1 in exon5:c.487delG:p.D163fs ...
Desikan, M +9 more
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BIOCHEMICAL APPROACHES FOR THE DIAGNOSIS AND TREATMENT OF LAFORA DISEASE [PDF]
, 2019 Glycogen is the sole carbohydrate storage molecule found in mammalian cells and plays an important role in cellular metabolism in nearly all tissues, including the brain.
Brewer, Mary Kathryn
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Incidence and characterization of polyglucosan bodies in the cerebella of montserrat orioles (Icterus oberi) [PDF]
Polyglucosan bodies are accumulations of insoluble glucose polymers and proteins that form intracytoplasmic inclusions in the brain, large numbers of which can be indicative of neurodegenerative diseases such as Lafora disease.
Barbon, Alberto +14 more
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