Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Author:
Funder
Bundesministerium für Bildung und Forschung
Deutsche Forschungsgemeinschaft
Publisher
Elsevier BV
Subject
Drug Discovery,Molecular Medicine
Reference52 articles.
1. Dominant optic atrophy;Lenaers;Orphanet J. Rare Dis.,2012
2. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy;Delettre;Nat. Genet.,2000
3. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat. Genet.,2000
4. Mutation spectrum and splicing variants in the OPA1 gene;Delettre;Hum. Genet.,2001
5. Regulation of mitochondrial morphology through proteolytic cleavage of OPA1;Ishihara;EMBO J.,2006
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