Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology
Abstract
Deafness-Dystonia-Optic Neuropathy (DDON) Syndrome is a rare X-linked progressive neurodegenerative disorder resulting from mutations in the TIMM8A gene encoding for the deafness dystonia protein 1 (DDP1). Despite important progress in identifying and characterizing novel mutations in this gene, little is known about the underlying pathomechanisms. Deficiencies in the biogenesis of hTim23 and consecutive alterations in biogenesis of inner...
Paper Details
Title
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology
Published Date
Oct 7, 2011
Journal
Volume
21
Issue
2
Pages
287 - 299
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