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A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca²⁺ movement and extracellular Ca²⁺ entry in skeletal muscle.

ABSTRACT: Stromal interaction molecule 1 (STIM1) mediates extracellular Ca²⁺ entry into the cytosol through a store-operated Ca²⁺ entry (SOCE) mechanism, which is involved in the physiological functions of various tissues, including skeletal muscle. STIM1 is also associated with skeletal muscle diseases, but its pathological mechanisms have not been well addressed. The present study focused on examining the pathological mechanism(s) of a mutant STIM1 (R429C) that causes human muscular hypotonia. R429C was expressed in mouse primary skeletal myotubes, and the properties of the skeletal myotubes were examined using single-cell Ca²⁺ imaging of myotubes and transmission electron microscopy (TEM) along with biochemical approaches. R429C did not interfere with the terminal

SUBMITTER: Choi JH

PROVIDER: S-EPMC6915709 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca²⁺ movement and extracellular Ca²⁺ entry in skeletal muscle.

OmicsDI is part of the ELIXIR infrastructure

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Dataset Information

A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca2+ movement and extracellular Ca2+ entry in skeletal muscle.

OmicsDI is part of the ELIXIR infrastructure

Tweets

A muscular hypotonia-associated STIM1 mutant at R429 induces abnormalities in intracellular Ca²⁺ movement and extracellular Ca²⁺ entry in skeletal muscle.