Ontology highlight
ABSTRACT:
SUBMITTER: Hadchouel A
PROVIDER: S-EPMC4570277 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Hadchouel Alice A Wieland Thomas T Griese Matthias M Baruffini Enrico E Lorenz-Depiereux Bettina B Enaud Laurent L Graf Elisabeth E Dubus Jean Christophe JC Halioui-Louhaichi Sonia S Coulomb Aurore A Delacourt Christophe C Eckstein Gertrud G Zarbock Ralf R Schwarzmayr Thomas T Cartault François F Meitinger Thomas T Lodi Tiziana T de Blic Jacques J Strom Tim M TM
American journal of human genetics 20150423 5
Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical for protein biosynthesis. We identified biallelic missense mutations in MARS in a specific form of pediatric pulmonary alveolar proteinosis (PAP), a severe lung disorder that is prevalent on the island of Réunion and the molecular basis of which is unresolved. Mutations were found in 26 individuals from Réunion and nearby islands and in two families from other countries. Functional consequences of the m ...[more]