A Deafness- and Diabetes-associated tRNA Mutation Causes Deficient Pseudouridinylation at Position 55 in tRNA(Glu) and Mitochondrial Dysfunction

Several mitochondrial tRNA mutations have been associated with maternally inherited diabetes and deafness. However, the pathophysiology of these tRNA mutations remains poorly understood. In this report, we identified the novel homoplasmic 14692A→G mutation in the mitochondrial tRNA(Glu) gene among t...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Wang, Meng, Liu, Hao, Zheng, Jing, Chen, Bobei, Zhou, Mi, Fan, Wenlu, Wang, Hen, Liang, Xiaoyang, Zhou, Xiaolong, Eriani, Gilbert, Jiang, Pingping, Guan, Min-Xin
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2016
Matèries:
RNA
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5076513/
https://ncbi.nlm.nih.gov/pubmed/27519417
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.739482
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars