CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

doi:10.1093/hmg/ddt170

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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

Human molecular genetics - 1 Aug 2013

van Bon Bregje W M, Oortveld Merel A W, Nijtmans Leo G, Fenckova Michaela, Nijhof Bonnie, Besseling Judith, Vos Melissa, Kramer Jamie M, de Leeuw Nicole, Castells-Nobau Anna, Asztalos Lenke, Viragh Erika, Ruiter Mariken, Hofmann Falko, Eshuis Lillian, Collavin Licio, Huynen Martijn A, Asztalos Zoltan, Verstreken Patrik, Rodenburg Richard J, Smeitink Jan A, de Vries Bert B A, Schenck Annette

Abstract excerpt

It is estimated that the human mitochondrial proteome consists of 1000-1500 distinct proteins. The majority of these support the various biochemical pathways that are active in these organelles. Individuals with an oxidative phosphorylation disorder of unknown cause provide a unique opportunity to identify novel genes implicated in mitochondrial biology. We identified a homozygous deletion of CEP89 in a patient...

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PMID: 23575228
DOI: 10.1093/hmg/ddt170

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CEP89
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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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