Article

<i>SMDT1</i> variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement

2022-10-31

Abstract excerpt

Ionic calcium (Ca 2+ ) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca 2+ uniporter (MCU), which is regulated by EMRE (essential MCU regulator) encoded by the SMDT1 (single-pass membrane protein with aspartate rich tail 1) gene. This work presents the genetic, clinical and cellular characterization...

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Literature Corpus work: 897b3275-82d6-5b17-9d6a-ab418158cea1
DOI: 10.1101/2022.10.31.514480

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