Article

Loss of TMEM65 causes mitochondrial disease mediated by mitochondrial calcium

2022-08-04

Abstract excerpt

Transmembrane protein 65 (TMEM65) depletion in a patient carrying a homozygous variant in the Tmem65 splice site resulted in severe mitochondrial encephalomyopathy, indicating the clinical importance of TMEM65. However, the function of TMEM65 remains unknown. Here, we generated a TMEM65 reporter mouse as well as whole-body and tissue-specific Tmem65 knockout (KO) mice to investigate the localization and function...

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Literature Corpus work: a276673a-0bf1-52c4-8818-d53f0ced2974
DOI: 10.1101/2022.08.02.502535

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