Results 11 to 20 of about 2,143,667 (228)
Potassium dependent rescue of a myopathy with core-like structures in mouse
eLife, 2015 Myopathies decrease muscle functionality. Mutations in ryanodine receptor 1 (RyR1) are often associated with myopathies with microscopic core-like structures in the muscle fiber. In this study, we identify a mouse RyR1 model in which heterozygous animals
M Gartz Hanson +4 more
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In vivo RyR1 reduction in muscle triggers a core-like myopathy [PDF]
Acta Neuropathologica Communications, 2020 Mutations in the RYR1 gene, encoding the skeletal muscle calcium channel RyR1, lead to congenital myopathies, through expression of a channel with abnormal permeability and/or in reduced amount, but the direct functional whole organism consequences of ...
Laurent Pelletier +17 more
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A recurrent homozygous ACTN2 variant associated with core myopathy. [PDF]
Acta Neuropathol, 2021 Inoue M +13 more
europepmc +3 more sources
Loss of LCN2 Function Ameliorates Glucocorticoid-Induced Muscle Atrophy via Remodeling the Extracellular Matrix. [PDF]
Adv Sci (Weinh)Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Shi H +11 more
europepmc +2 more sources
Myopathy with Central Cores in a Foal [PDF]
Veterinary Pathology, 2006 Central core disease is a nonprogressive or slowly progressive congenital myopathy with a variable degree of hypotonia and axial and proximal muscle weakness that is histologically characterized by areas devoid of oxidative enzyme activity, resulting from an absence or low numbers of mitochondria in these regions (central core).
PACIELLO, ORLANDO +4 more
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Characterization of recessive RYR1 mutations in core myopathies [PDF]
Human Molecular Genetics, 2006 We have characterized at the molecular level, three families with core myopathies carrying apparent recessive mutations in their RYR1 gene and studied the pharmacological properties of myotubes carrying endogenous mutations as well as the properties of mutant channels expressed in HEK293 cells.
Zhou, Haiyan +10 more
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Myotubular/centronuclear myopathy and central core disease [PDF]
Neurology India, 2008 The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on muscle biopsy.
Fujimura-Kiyono, Chieko +2 more
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The Bibliometric Analysis of the Alcohol-induced Muscle Disease Based on CiteSpace
Науковий вісник Східноєвропейського національного університету імені Лесі Українки: Серія: Біологічні науки, 2021 Myopathy of the skeletal muscles is caused by excessive misuse of ethanol and affects half to two-thirds of pathological alcohol abusers. It is possible to identify alcohol-induced skeletal muscle disruptions as either 'acute or chronic'.
Wang Nan, Oleksandr Motuziuk
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Role of autophagy in glycogen breakdown and its relevance to chloroquine myopathy. [PDF]
PLoS Biology, 2013 Several myopathies are associated with defects in autophagic and lysosomal degradation of glycogen, but it remains unclear how glycogen is targeted to the lysosome and what significance this process has for muscle cells.
Jonathan Zirin +2 more
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Association of acute hepatitis B and acute myopathy: a case report
Journal of Medical Case Reports, 2022 Background Hepatitis B virus infection is a global public health problem. Although hepatitis B virus primarily affects hepatocytes, it sometimes develops disease manifestations outside the liver, such as myopathy, which is commonly caused by chronic ...
Mehrangiz Zangeneh +2 more
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