The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1-Reference-Cited by-同舟云学术

The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

Published:2015-02-04 Issue:10 Volume:24 Page:2841-2847
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Sasarman Florin,Thiffault Isabelle,Weraarpachai Woranontee,Salomon Steven,Maftei Catalina,Gauthier Julie,Ellazam Benjamin,Webb Neil,Antonicka Hana,Janer Alexandre,Brunel-Guitton Catherine,Elpeleg Orly,Mitchell Grant,Shoubridge Eric A.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/24/10/2841/14143313/ddv044.pdf

Reference23 articles.

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2. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases;Suzuki;Annu. Rev. Genet.,2011

3. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA);Bykhovskaya;Am. J. Hum. Genet.,2004

4. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis;Ghezzi;Am. J. Hum. Genet.,2012

5. Acute infantile liver failure due to mutations in the TRMU gene;Zeharia;Am. J. Hum. Genet.,2009

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