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Article

Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.

Amino acids - 1 May 2012

Leitão-Gonçalves Ricardo, Ermanoska Biljana, Jacobs An, De Vriendt Els, Timmerman Vincent, Lupski James R, Callaerts Patrick, Jordanova Albena

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the major form of inherited peripheral neuropathy in humans. CMT is clinically and genetically heterogeneous and four aminoacyl-tRNA synthetases have been implicated in disease etiology. Mutations in the YARS gene encoding a tyrosyl-tRNA synthetase (TyrRS) lead to Dominant Intermediate CMT type C (DI-CMTC). Three dominant YARS mutations were so far associated with DI-CMTC. To...

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PMID: 21384131
DOI: 10.1007/s00726-011-0868-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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