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Published in 2018 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy054
Abstract: Abstract Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterized by compromised function of the neuromuscular junction, manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS…
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Keywords:
secretion;
agrin;
intracellular transport;
motor ... See more keywords
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Published in 2021 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2021.679518
Abstract: The molecular pathogenesis of diabetic kidney disease progression is complex and remains unresolved. Rho-GAP MYO9A was recently identified as a novel podocyte protein and a candidate gene for monogenic FSGS. Myo9A involvement in diabetic kidney…
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Keywords:
nitrosylation;
diabetic kidney;
myo9a;
kidney disease ... See more keywords