CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
Abstract
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 with isolated complex IV...
Paper Details
Title
CEP89 is required for mitochondrial metabolism and neuronal function in man and fly
Published Date
Apr 10, 2013
Journal
Volume
22
Issue
15
Pages
3138 - 3151
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