Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency-Reference-Cited by-同舟云学术

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Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency

Published:2020-01-29 Issue:4 Volume:594 Page:590-610
ISSN:0014-5793
Container-title:FEBS Letters
language:en
Short-container-title:FEBS Lett

Author:

Burgin Harrison James¹,McKenzie Matthew¹²³^ORCID

Affiliation:

1. School of Life and Environmental Sciences Faculty of Science, Engineering and Built Environment Deakin University Geelong Australia

2. Centre for Innate Immunity and Infectious Diseases Hudson Institute of Medical Research Melbourne Australia

3. Department of Molecular and Translational Science Monash University Melbourne Australia

Funder

Australian Mitochondrial Disease Foundation

Deakin University

Publisher

Wiley

Subject

Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/1873-3468.13735

Reference137 articles.

1. A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency

2. Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome

3. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

4. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

5. Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency

Cited by 21 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Valine restriction extends survival in aDrosophilamodel of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency;2024-08-17

2. Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency;2024-06-13

3. Complex II ambiguities—FADH2 in the electron transfer system;Journal of Biological Chemistry;2024-01

4. Strategic validation of variants of uncertain significance inECHS1genetic testing;Journal of Medical Genetics;2023-04-13

5. Stimulating Mitochondrial Biogenesis with Deoxyribonucleosides Increases Functional Capacity in ECHS1-Deficient Cells;International Journal of Molecular Sciences;2022-10-20

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