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Article

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.

European journal of medical genetics - 1 Oct 2018

Rips Jonathan, Meyer-Schuman Rebecca, Breuer Oded, Tsabari Reuven, Shaag Avraham, Revel-Vilk Shoshana, Reif Shimon, Elpeleg Orly, Antonellis Anthony, Harel Tamar

Abstract excerpt

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic mutations in genes encoding several ARSs have been identified in axonal Charcot-Marie-Tooth (CMT2) disease, whereas...

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Identifiers

PMID: 29655802
DOI: 10.1016/j.ejmg.2018.04.005
PMCID: PMC6133759

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