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Article

Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50.

eLife - 16 Dec 2024

Paz Eyal, Jain Sahil, Gottfried Irit, Staretz-Chacham Orna, Mahajnah Muhammad, Bagchi Pritha, Seyfried Nicholas T, Ashery Uri, Azem Abdussalam

Abstract excerpt

TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ~60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease-causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, and TIMM23). Strikingly, TIMM50 deficiency had no impact on the steady-state levels of most of its putative substrates,...

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Fibroblasts
Membrane Transport Proteins
Mice
Mitochondria
Mitochondrial Membrane Transport Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mitochondrial Precursor Protein Import Complex Proteins

Mitochondrial Proteins

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PMID: 39680434
DOI: 10.7554/eLife.99914
PMCID: PMC11649234

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