Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy-Reference-Cited by-同舟云学术

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Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy

Published:2019-12 Issue: Volume:21 Page:100528
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Barcia Giulia,Assouline Zahra,Pennisi Alessandra,Gitiaux Cyril,Schiff Manuel,Boddaert Nathalie,Munnich Arnold,Bonnefont Jean-Paul,Rötig Agnès

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference9 articles.

1. Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1;Leary;Hum. Mol. Genet.,2009

2. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene;Papadopoulou;Nat. Genet.,1999

3. Mutation screening in patients with isolated cytochrome c oxidase deficiency;Sacconi;Pediatr. Res.,2003

4. Mutations in SCO2 are associated with autosomal-dominant high-grade myopia;Tran-Viet;Am. J. Hum. Genet.,2013

5. Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts;Jaksch;Hum. Mol. Genet.,2001

Cited by 6 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. Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency;Pharmaceutics;2023-01-14

2. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease;Human Mutation;2022-02-16

3. Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants;Neurology Genetics;2021-11-04

4. Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain;International Journal of Molecular Sciences;2021-08-03

5. Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain;Mitochondrial Diseases;2021

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