Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

The synthesis of all 13 mitochondrial DNA (mtDNA)-encoded protein subunits of the human oxidative phosphorylation (OXPHOS) system is carried out by mitochondrial ribosomes (mitoribosomes). Defects in the stability of mitoribosomal proteins or mitoribosome assembly impair mitochondrial protein transl...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Lake, Nicole J., Webb, Bryn D., Stroud, David A., Richman, Tara R., Ruzzenente, Benedetta, Compton, Alison G., Mountford, Hayley S., Pulman, Juliette, Zangarelli, Coralie, Rio, Marlene, Bodaert, Nathalie, Assouline, Zahra, Sherpa, Mingma D., Schadt, Eric E., Houten, Sander M., Byrnes, James, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Haude, Katrina, Zhang, Zhancheng, Retterer, Kyle, Bai, Renkui, Calvo, Sarah E., Mootha, Vamsi K., Christodoulou, John, Rötig, Agnes, Filipovska, Aleksandra, Cristian, Ingrid, Falk, Marni J., Metodiev, Metodi D., Thorburn, David R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5544391/
https://ncbi.nlm.nih.gov/pubmed/28777931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.07.005
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados