A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression

The p.N478D missense mutation in human mitochondrial poly(A) polymerase (mtPAP) has previously been implicated in a form of spastic ataxia with optic atrophy. In this study, we have investigated fibroblast cell lines established from family members. The homozygous mutation resulted in the loss of po...

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Udgivet i:Hum Mol Genet
Main Authors: Wilson, William C., Hornig-Do, Hue-Tran, Bruni, Francesco, Chang, Jeong Ho, Jourdain, Alexis A., Martinou, Jean-Claude, Falkenberg, Maria, Spåhr, Henrik, Larsson, Nils-Göran, Lewis, Richard J., Hewitt, Lorraine, Baslé, Arnaud, Cross, Harold E., Tong, Liang, Lebel, Robert R., Crosby, Andrew H., Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4222368/
https://ncbi.nlm.nih.gov/pubmed/25008111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu352
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