MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mitochondrial disorders are clinically and genetically heterogeneous and are associated with a variety of disease mechanisms. Defects of mitochondrial protein synthesis account for the largest subgroup of disorders manifesting with impaired respiratory chain capacity; yet, only a few have been linke...

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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Bugiardini, Enrico, Mitchell, Alice L, Rosa, Ilaria Dalla, Horning-Do, Hue-Tran, Pitmann, Alan M, Poole, Olivia V, Holton, Janice L, Shah, Sachit, Woodward, Cathy, Hargreaves, Iain, Quinlivan, Rosaline, Amunts, Alexey, Wiesner, Rudolf J, Houlden, Henry, Holt, Ian J, Hanna, Michael G, Pitceathly, Robert D S, Spinazzola, Antonella
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2019
Teme:
General Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687946/
https://ncbi.nlm.nih.gov/pubmed/31039582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz093
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