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Autophagy controls the pathogenicity of OPA 1 mutations in dominant optic atrophy

Autophagy controls the pathogenicity of OPA 1 mutations in dominant optic atrophy

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1943574348

Autophagy controls the pathogenicity of OPA 1 mutations in dominant optic atrophy

About this item

Full title

Autophagy controls the pathogenicity of OPA 1 mutations in dominant optic atrophy

Publisher

Chichester: John Wiley & Sons, Inc

Journal title

Journal of cellular and molecular medicine, 2017-10, Vol.21 (10), p.2284-2297

Language

English

Formats

Publication information

Publisher

Chichester: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Optic Atrophy 1 (
OPA
1) gene mutations cause diseases ranging from isolated dominant optic atrophy (
DOA
) to various multisystemic disorders.
OPA
1, a large
GTP
ase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of
OPA
1
mutations encodes truncated forms of the protein...

Alternative Titles

Full title

Autophagy controls the pathogenicity of OPA 1 mutations in dominant optic atrophy

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_1943574348

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1943574348

Other Identifiers

ISSN

1582-1838

E-ISSN

1582-4934

DOI

10.1111/jcmm.13149

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