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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Am J Hum Genet
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Elsevier 2017
विषय:
Article
ऑनलाइन पहुंच: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
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