Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Human molecular genetics - 21 Feb 2022
Zheng Wen-Qiang, Pedersen Signe Vandal, Thompson Kyle, Bellacchio Emanuele, French Courtney E, Munro Benjamin, Pearson Toni S, Vogt Julie, Diodato Daria, Diemer Tue, Ernst Anja, Horvath Rita, Chitre Manali, Ek Jakob, Wibrand Flemming, Grange Dorothy K, Raymond Lucy, Zhou Xiao-Long, Taylor Robert W, Ostergaard Elsebet
Abstract excerpt
TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here...
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