Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation-Reference-Cited by-同舟云学术

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Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation

Published:2013-06 Issue:2 Volume:109 Page:154-160
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wen Bing,Li Duoling,Shan Jingli,Liu Shuping,Li Wei,Zhao Yuying,Lin Pengfei,Zheng Jinfan,Li Danian,Gong Yaoqin,Yan Chuanzhu

Funder

National Natural Science Foundation of China

Key Clinical Program of the Ministry of Health of China

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations;Wen;J. Neurol. Neurosurg. Psychiatry,2010

2. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency;Liang;Neuromuscul. Disord.,2009

3. Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A;Wang;J Mol Med (Berl).,2011

4. Structure of electron transfer flavoprotein–ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool;Zhang;Proc. Natl. Acad. Sci. U. S. A.,2006

5. The electron transfer flavoprotein: ubiquinone oxidoreductases;Watmough;Biochim. Biophys. Acta,2010

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2. Resistance training prevents dynamics and mitochondrial respiratory dysfunction in vastus lateralis muscle of ovariectomized rats;Experimental Gerontology;2023-03

3. Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs;Nucleic Acids Research;2023-01-18

4. Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series;Frontiers in Neurology;2021-11-08

5. Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study;Human Molecular Genetics;2021-10-27

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