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Article

CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy.

Blood advances - 9 Aug 2022

Cordero-Sanchez Celia, Pessolano Emanuela, Riva Beatrice, Vismara Mauro, Trivigno Silvia Maria Grazia, Clemente Nausicaa, Aprile Silvio, Ruffinatti Federico Alessandro, Portararo Paola, Filigheddu Nicoletta, Zaggia Ivan, Bhela Irene P, Serafini Marta, Pirali Tracey, Colombo Mario P, Torti Mauro, Sangaletti Sabina, Bertoni Alessandra, Genazzani Armando A

Abstract excerpt

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, STIM1 and ORAI1, are associated with several ultra-rare diseases clustered as tubular aggregate myopathies. Our group has previously demonstrated that a...

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Identifiers

PMID: 35696753
DOI: 10.1182/bloodadvances.2021006378
PMCID: PMC9636319

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CIC-39Na reverses the thrombocytopenia that characterizes tubular aggregate myopathy.PMID 35696753Read ↗

STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39.Semantic proximity Read ↗

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