A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease-Reference-Cited by-同舟云学术

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A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease

Published:2020-06-24 Issue:2 Volume:44 Page:388-400
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Yap Zheng Yie¹,Strucinska Klaudia¹,Matsuzaki Satoshi¹,Lee Sukyeong²,Si Yue³,Humphries Kenneth¹,Tarnopolsky Mark A.⁴^ORCID,Yoon Wan Hee¹

Affiliation:

1. Aging and Metabolism Research Program Oklahoma Medical Research Foundation Oklahoma City Oklahoma USA

2. Verna and Marrs McLean Department of Biochemistry and Molecular Biology Baylor College of Medicine Houston Texas USA

3. GeneDx, Inc. Maryland USA

4. Department of Pediatrics McMaster University Hamilton Ontario Canada

Funder

National Institutes of Health

Presbyterian Health Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12248

Reference44 articles.

1. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

2. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

3. Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

4. Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

5. Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

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2. Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency;Molecular Genetics and Metabolism Reports;2024-06

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5. Effects of Dityrosine on Lactic Acid Metabolism in Mice Gastrocnemius Muscle During Endurance Exercise via the Oxidative Stress-Induced Mitochondria Damage;Journal of Agricultural and Food Chemistry;2024-03-05

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