A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

doi:10.1016/j.ajhg.2012.09.002

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Article

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

American journal of human genetics - 2 Nov 2012

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

Abstract excerpt

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 poorly characterized process in mammals. At the organismal level, however, the effect of PNPase dysfunction and...

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Identifiers

PMID: 23084290
DOI: 10.1016/j.ajhg.2012.09.002
PMCID: PMC3487123

Genes

PNPT1

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Source receipt: pubmed, retrieved 6 Sept 2026.

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A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.PMID 23084290Read ↗

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