Article
Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
Muscle & nerve - 1 Sept 2017
Liang Wen-Chen, Lin Yen-Fong, Liu Ting-Yuan, Chang Shin-Cheng, Chen Bai-Hsiun, Nishino Ichizo, Jong Yuh-Jyh
Abstract excerpt
INTRODUCTION: c.250G>A (p.Ala84Thr) in ETFDH is the most common mutation that causes later-onset multiple acyl-coenzyme A dehydrogenase deficiency (MADD) in the southern Chinese population. No functional study has targeted this mutation. METHODS: Using cells expressing ETFDH-wild-type (WT) or ETFDH-mutant (p.Ala84Thr), reactive oxygen species (ROS) production and neurite length were analyzed, followed by...
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