P158: The diagnostic odyssey: A review of two patients with adult polyglucosan body disease
Genetics in Medicine Open, 2023 Anusha Ebrahim +4 more
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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
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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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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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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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[Multiple entrapments neuropathy in adult polyglucosan body disease].
Neurologia (Barcelona, Spain), 1995 Adult polyglucosan body disease (APBD) is a rare condition characterized by neuropathy, dementia, upper motor neuron dysfunction and neurogenic bladder. For diagnosis, the presence of polyglucosan bodies (PB), or PAS (+) glucose polymers, must be demonstrated.
E, Gil-Néciga +4 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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THE REGULATION OF TNF SIGNALING IN METABOLISM-RELATED DISEASES [PDF]
Tumor necrosis factor (TNF) is a proinflammatory cytokine with a well-established role in diabetes pathogenesis. In addition to driving inflammation, TNF can induce cell death; yet the contribution of TNF-induced cell death to β-cell loss in diabetes ...
Veli, Önay
core
[Adult polyglucosan body disease: report of one case].
Neurologia (Barcelona, Spain), 2001 Adult polyglucosan body disease is a recently established clinicopathological entity, with few cases reported in the literature. In this paper we describe a case of a 46-year-old man who had died to a pancreatic cancer whose neuropathological study revealed a massive accumulation of polyglucosan bodies in the cerebral white matter, brainstem ...
A, Hernández +3 more
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