Journal article
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl‐tRNA synthase in six individuals with mitochondrial encephalopathy
Abstract
Mitochondrial protein synthesis involves an intricate interplay between mitochondrial DNA encoded RNAs and nuclear DNA encoded proteins, such as ribosomal proteins and aminoacyl-tRNA synthases. Eukaryotic cells contain 17 mitochondria-specific aminoacyl-tRNA synthases. WARS2 encodes mitochondrial tryptophanyl-tRNA synthase (mtTrpRS), a homodimeric class Ic enzyme (mitochondrial tryptophan-tRNA ligase; EC 6.1.1.2). Here, we report six …
Authors
Wortmann SB; Timal S; Venselaar H; Wintjes LT; Kopajtich R; Feichtinger RG; Onnekink C; Mühlmeister M; Brandt U; Smeitink JA
Journal
Human Mutation, Vol. 38, No. 12, pp. 1786–1795
Publisher
Hindawi
Publication Date
12 2017
DOI
10.1002/humu.23340
ISSN
1059-7794