FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance-Reference-Cited by-同舟云学术

FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Published:2018-11 Issue:3 Volume:125 Page:281-291
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Almannai Mohammed,Wang Julia^ORCID,Dai Hongzheng,El-Hattab Ayman W.,Faqeih Eissa A.,Saleh Mohammed A.,Al Asmari Ali,Alwadei Ali H.,Aljadhai Yaser I.,AlHashem Amal,Tabarki Brahim,Lines Matthew A.,Grange Dorothy K.,Benini Ruba,Alsaman Abdulaziz S.,Mahmoud Adel,Katsonis Panagiotis,Lichtarge Olivier,Wong Lee-Jun C.

Funder

NIH

Robert and Janice McNair Foundation

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference31 articles.

1. Mitochondrial cytopathies;El-Hattab;Cell Calcium,2016

2. Mitochondrial DNA maintenance defects;El-Hattab;Biochim. Biophys. Acta,2017

3. Mitochondrial aminoacyl-tRNA synthetases in human disease;Konovalova;Mol. Genet. Metab.,2013

4. Diodato D, Ghezzi D, Tiranti V. The mitochondrial aminoacyl tRNA Synthetases: genes and syndromes. Int. J. Cell Biol. doi:https://doi.org/10.1155/2014/787956.

5. Nuclear genes and mitochondrial translation: a new class of genetic disease;Jacobs;Trends Genet TIG,2005

Cited by 28 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. Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations;Genes;2024-07-08

2. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

3. Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review;BMC Neurology;2024-01-02

4. Traffic Density Exposure, Oxidative Stress Biomarkers and Plasma Metabolomics in a Population-Based Sample: The Hortega Study;Antioxidants;2023-12-15

5. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease;Molecular Genetics and Metabolism;2023-11