A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

A subset of nuclear-encoded RNAs has to be imported into mitochondria for the proper replication and transcription of the mitochondrial genome and, hence, for proper mitochondrial function. Polynucleotide phosphorylase (PNPase or PNPT1) is one of the very few components known to be involved in this...

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Bibliografski detalji
Glavni autori: von Ameln, Simon, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nürnberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nürnberg, Peter, Hofmann, Kay, Richardson, Guy P., Hammerschmidt, Matthias, Moser, Tobias, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid, Kubisch, Christian
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2012
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487123/
https://ncbi.nlm.nih.gov/pubmed/23084290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.09.002
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