Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect-Reference-Cited by-同舟云学术

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Published:2010-07 Issue:1 Volume:87 Page:115-122
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Antonicka Hana,Østergaard Elsebet,Sasarman Florin,Weraarpachai Woranontee,Wibrand Flemming,Pedersen Anne Marie B.,Rodenburg Richard J.,van der Knaap Marjo S.,Smeitink Jan A.M.,Chrzanowska-Lightowlers Zofia M.,Shoubridge Eric A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Mitochondrial DNA mutations in human disease;Taylor;Nat. Rev. Genet.,2005

2. Disorders of mitochondrial function;Debray;Curr. Opin. Pediatr.,2008

3. Initiation and elongation factors in mammalian mitochondrial protein biosynthesis;Spremulli;Prog. Nucleic Acid Res. Mol. Biol.,2004

4. Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome;Weraarpachai;Nat. Genet.,2009

5. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome;Richter;EMBO J.,2010

Cited by 133 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. A zebrafish tufm mutant model for the COXPD4 syndrome of aberrant mitochondrial function;Journal of Genetics and Genomics;2024-09

2. N-Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg²⁺influx in conditions of high glucose or impaired respiratory chain function;2024-07-10

3. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24

4. Mitochondrial protein synthesis quality control;Human Molecular Genetics;2024-05-22

5. Illuminating mitochondrial translation through mouse models;Human Molecular Genetics;2024-05-22