ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency-Reference-Cited by-全球学者库

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ETFDH Mutations and Flavin Adenine Dinucleotide Homeostasis Disturbance Are Essential for Developing Riboflavin‐Responsive Multiple Acyl–Coenzyme A Dehydrogenation Deficiency

Published:2018-10-19 Issue:5 Volume:84 Page:659-673
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Xu Jingwen¹,Li Duoling¹,Lv Jingwei¹,Xu Xuebi¹,Wen Bing¹,Lin Pengfei¹,Liu Fuchen¹²,Ji Kunqian¹,Shan Jingli¹,Li Honghao¹,Li Wei¹,Zhao Yuying¹,Zhao Dandan¹,Pok Joo Y.³,Yan Chuanzhu¹⁴⁵

Affiliation:

1. Research Institute of Neuromuscular and Neurodegenerative Disease, Department of Neurology, Qilu HospitalShandong University Jinan China

2. Department of NeurobiologyYale University School of Medicine New Haven CT

3. Department of NeurologyYale University New Haven CT

4. Brain Science Research InstituteShandong University Jinan China

5. Laboratory of Mitochondrial Medicine, Qilu Hospital (Qingdao) Qingdao China

Funder

National Natural Science Foundation of China

Qingdao University of Science and Technology

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ana.25338

Reference34 articles.

1. Emerging Roles for Riboflavin in Functional Rescue of Mitochondrial β-Oxidation Flavoenzymes

2. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency

3. High resolution melting analysis facilitates mutation screening of ETFDH gene: Applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

4. Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency

5. 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

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2. Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency;Muscle & Nerve;2023-08-22

3. Riboflavin protects against heart failure via SCAD‐dependent DJ‐1–Keap1–Nrf2 signalling pathway;British Journal of Pharmacology;2023-08-07

4. Vitamin B2 enables regulation of fasting glucose availability;eLife;2023-07-07

5. Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation;BMJ Case Reports;2023-05

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