Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
About this item
Full title
Author / Creator
Publisher
England: John Wiley and Sons Inc
Journal title
Language
English
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Publisher
England: John Wiley and Sons Inc
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Scope and Contents
Contents
Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of the protein and causes DOA through haploinsufficien...
Alternative Titles
Full title
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
Authors, Artists and Contributors
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618673
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5618673
Other Identifiers
ISSN
1582-1838
E-ISSN
1582-4934
DOI
10.1111/jcmm.13149
