Glycogen and its metabolism: some new developments and old themes
PJ Roach, AA Depaoli-Roach, TD Hurley… - Biochemical …, 2012 - portlandpress.com
Glycogen is a branched polymer of glucose that acts as a store of energy in times of
nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of …
nutritional sufficiency for utilization in times of need. Its metabolism has been the subject of …
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
T Gall-Duncan, N Sato, RKC Yuen… - Genome …, 2022 - genome.cshlp.org
Expansions of gene-specific DNA tandem repeats (TRs), first described in 1991 as a
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
disease-causing mutation in humans, are now known to cause> 60 phenotypes, not just …
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the …
Lafora disease—from pathogenesis to treatment strategies
Lafora disease is a severe, autosomal recessive, progressive myoclonus epilepsy. The
disease usually manifests in previously healthy adolescents, and death commonly occurs …
disease usually manifests in previously healthy adolescents, and death commonly occurs …
Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy
Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling
abnormal glycogen accumulate in several neurological diseases, particularly in progressive …
abnormal glycogen accumulate in several neurological diseases, particularly in progressive …
[HTML][HTML] Nuclear glycogenolysis modulates histone acetylation in human non-small cell lung cancers
Nuclear glycogen was first documented in the early 1940s, but its role in cellular physiology
remained elusive. In this study, we utilized pure nuclei preparations and stable isotope …
remained elusive. In this study, we utilized pure nuclei preparations and stable isotope …
Lafora disease
J Turnbull, E Tiberia, P Striano, P Genton… - Epileptic …, 2016 - Wiley Online Library
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to
mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype …
mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype …
The classification of autosomal recessive cerebellar ataxias: a consensus statement from the society for research on the cerebellum and ataxias task force
M Beaudin, A Matilla-Dueñas, BW Soong, JL Pedroso… - The Cerebellum, 2019 - Springer
There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex …
group of disorders characterized by important genetic heterogeneity and complex …
Genetic mechanisms that underlie epilepsy
OK Steinlein - Nature Reviews Neuroscience, 2004 - nature.com
Genetic factors can cause recurrent abnormal synchronization and episodic hyperexcitability
of neuronal networks through various mechanisms. Many of the genes that have been …
of neuronal networks through various mechanisms. Many of the genes that have been …
Glycogen metabolism and structure: A review
Glycogen is a glucose polymer that plays a crucial role in glucose homeostasis by
functioning as a short-term energy storage reservoir in animals and bacteria. Abnormalities …
functioning as a short-term energy storage reservoir in animals and bacteria. Abnormalities …