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

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)...

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Hoofdauteurs: Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz-Chacham, Muhammad Mahajnah, Pritha Bagchi, Nicholas T Seyfried, Uri Ashery, Abdussalam Azem
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: eLife Sciences Publications Ltd 2024-12-01
Reeks:eLife
Onderwerpen:
mitochondria
mitochondrial protein import
TIM23
TIMM50
TIMM50 disease
import disease
Online toegang:https://elifesciences.org/articles/99914
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