Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2016.10.006
Abstract: STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome,… read more here.
Keywords: aggregate myopathy; mutation; features stormorken; stim1 mutation ... See more keywords
CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy
Sign Up to like & getrecommendations! Published in 2022 at "Blood Advances"
DOI: 10.1182/bloodadvances.2021006378
Abstract: Abstract Store-operated Ca2+-entry is a cellular mechanism that governs the replenishment of intracellular stores of Ca2+ upon depletion caused by the opening of intracellular Ca2+-channels. Gain-of-function mutations of the 2 key proteins of store-operated Ca2+-entry,… read more here.
Keywords: tubular aggregate; operated ca2; aggregate myopathy; cic 39na ... See more keywords
Gain-of-Function STIM1 L96V Mutation Causes Myogenesis Alteration in Muscle Cells From a Patient Affected by Tubular Aggregate Myopathy
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DOI: 10.3389/fcell.2021.635063
Abstract: Tubular Aggregate Myopathy (TAM) is a hereditary ultra-rare muscle disorder characterized by muscle weakness and cramps or myasthenic features. Biopsies from TAM patients show the presence of tubular aggregates originated from sarcoplasmic reticulum due to… read more here.
Keywords: aggregate myopathy; mutation; muscle; stim1 l96v ... See more keywords
Silencing of the Ca2+ Channel ORAI1 Improves the Multi-Systemic Phenotype of Tubular Aggregate Myopathy (TAM) and Stormorken Syndrome (STRMK) in Mice
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DOI: 10.3390/ijms23136968
Abstract: Tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) form a clinical continuum associating progressive muscle weakness with additional multi-systemic anomalies of the bones, skin, spleen, and platelets. TAM/STRMK arises from excessive extracellular Ca2+ entry due… read more here.
Keywords: tam; tubular aggregate; myopathy tam; aggregate myopathy ... See more keywords