Muscle function & homeostasis / molecular therapeutic approaches

Stromal interaction molecule 1 (STIM1) is the calcium sensor of the endo/sarcoplasmic reticulum (E/SR), essential to maintain calcium homeostasis. Together with ORAI1, a CRAC channels (calcium release activated channel), STIM1 participates in intracellular calcium stores replenishing through SOCE (store operated calcium entry). The luminal part senses ER intraluminal Ca2+ and the cytosolic part binds ORAI1. Genetic mutations in STIM1 gene have been described in different clinical conditions. Loss of function mutations have been described in patients presenting CRAC channelopathies.

Source: Neuromuscular Disorders - September 28, 2020 Category: Neurology Authors: A. Salvi, M. Bartoli Source Type: research