Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis-Reference-Cited by-同舟云学术

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis

Published:2018-10-03 Issue:12 Volume:39 Page:2047-2059
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ruzzenente Benedetta¹,Assouline Zahra²,Barcia Giulia²,Rio Marlène²,Boddaert Nathalie³,Munnich Arnold¹²,Rötig Agnès¹,Metodiev Metodi D.¹^ORCID

Affiliation:

1. INSERM UMR1163; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine; Paris France

2. Departments of Pediatrics, Neurology and Genetics; Hôpital Necker-Enfants-Malades; Paris France

3. Department of pediatric radiology; INSERM 1000 and INSERM UMR1136; Hôpital Necker-Enfants-Malades AP-HP; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine; Paris France

Funder

Agence Nationale de la Recherche

AFM-Téléthon

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23657/fullpdf

Reference53 articles.

2. The role of tRNA synthetases in neurological and neuromuscular disorders;Boczonadi;FEBS Letters,2018

3. Electrophoresis techniques to investigate defects in oxidative phosphorylation;Calvaruso;Methods,2008