A novel mutation in the mitochondrial tRNAAsn gene associated with a lethal disease-Reference-Cited by-同舟云学术

A novel mutation in the mitochondrial tRNAAsn gene associated with a lethal disease

Published:2005-04 Issue:3 Volume:329 Page:1152-1154
ISSN:0006-291X
Container-title:Biochemical and Biophysical Research Communications
language:en
Short-container-title:Biochemical and Biophysical Research Communications

Author:

Coulbault Laurent,Herlicoviez Danielle,Chapon Françoise,Read Marie-Hélène,Penniello Marie-José,Reynier Pascal,Fayet Guillemette,Lombès Anne,Jauzac Philippe,Allouche Stéphane

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference14 articles.

1. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies;Goto;Nature,1990

2. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation;Shoffner;Cell,1990

3. http://www.mitomap.org, MITOMAP: a human mitochondrial database. Available from:

4. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders;Sternberg;Brain,2001

5. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes;Chomyn;J. Biol. Chem.,2000

Cited by 14 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. Niacin supplementation in a child with novel MTTN variant m.5670A>G causing early onset mitochondrial myopathy and NAD+ deficiency;Neuromuscular Disorders;2024-10

2. Progressive external ophthalmoplegia associated with novel MT ‐ TN mutations;Acta Neurologica Scandinavica;2020-09-19

3. Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia;Neuromuscular Disorders;2019-05

4. Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis;Mitochondrion;2018-11

5. Getting Down to Specifics;Advances in Genetics;2015