Article
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Human molecular genetics - 1 Dec 2018
Weterman Marian A J, Kuo Molly, Kenter Susan B, Gordillo Sara, Karjosukarso Dyah W, Takase Ryuichi, Bronk Marieke, Oprescu Stephanie, van Ruissen Fred, Witteveen Ron J W, Bienfait Henriette M E, Breuning Martijn, Verhamme Camiel, Hou Ya-Ming, de Visser Marianne, Antonellis Anthony, Baas Frank
Abstract excerpt
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase (AARS) gene in three families with dominant axonal Charcot-Marie-Tooth (CMT) disease. Two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.