Leigh syndrome associated with TRMU gene mutations-Reference-Cited by-同舟云学术

Leigh syndrome associated with TRMU gene mutations

Published:2021-03 Issue: Volume:26 Page:100690
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Sala-Coromina Júlia,Miguel Lucía Dougherty-de,de las Heras Javier,Lasa-Aranzasti Amaia,Garcia-Arumi Elena,Carreño Lidia,Arranz Jose Antonio,Carnicer Clara,Unceta-Suárez María,Sanchez-Montañez Angel,Gort Laura,Tort Frederic,del Toro Mireia

Funder

Instituto de Salud Carlos III

Fondo de Investigaciones Sanitarias

ERDF

Agència de Gestió d'Ajuts Universitaris i de Recerca

CERCA Programme/Generalitat de Catalunya

Generalitat de Catalunya

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference15 articles.

1. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations;Guan;Am. J. Hum. Genet.,2006

2. Acute infantile liver failure due to mutations in the TRMU gene;Zeharia;Am. J. Hum. Genet.,2009

3. Leigh syndrome: neuropathology and pathogenesis;Lake;J. Neuropathol. Exp. Neurol.,2015

4. Use of exome sequencing for infants in intensive care units ascertainment of severe single-gene disorders and effect on medical management;Meng;JAMA Pediatr.,2017

5. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations;Schara;J. Inherit. Metab. Dis.,2011

Cited by 4 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. Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP);Nucleic Acids Research;2023-12-19

2. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum;Annals of Neurology;2023-08-12

3. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants;Genetics in Medicine;2022-10

4. Mitochondrial Hepatopathy;Clinics in Liver Disease;2022-08