ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway

ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway

Abstract The most common mutation in southern Chinese individuals with late-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD; a fatty acid metabolism disorder) is c.250G > A (p.Ala84Thr) in the electron transfer flavoprotein dehydrogenase gene (ETFDH). Various phenotypes, including e...

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Bibliographic Details
Main Authors: Chuang-Yu Lin, Wen-Chen Liang, Yi-Chen Yu, Shin-Cheng Chang, Ming-Chi Lai, Yuh-Jyh Jong
Format: Article
Language:English
Published: Nature Portfolio 2024-10-01
Series:Scientific Reports
Subjects:
Multiple acyl-coenzyme A dehydrogenase deficiency
Riboflavin
Carnitine
Coenzyme Q10
ETFDH
Apoptosis
Online Access:https://doi.org/10.1038/s41598-024-75286-4
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https://doi.org/10.1038/s41598-024-75286-4

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