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High-throughput phenotypic screen for genetic modifiers in patient-derived <i>OPA1</i> mutant fibroblasts identifies <i>PGS1</i> as a functional suppressor of mitochondrial fragmentation

2021-01-15

Abstract excerpt

Mutations affecting the mitochondrial fusion protein Optic Atrophy 1 (OPA1) cause autosomal dominant optic atrophy (DOA) – one of the most common form of mitochondrial disease. The majority of patients develop isolated optic atrophy, but about 20% of OPA1 mutation carriers manifest more severe neurological deficits as part of a “DOA+” phenotype. OPA1 deficiency causes mitochondrial fragmentation and also disrupts...

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Literature Corpus work
500de114-d9bb-59a6-85fd-cf52d3cfb5ce
DOI
10.1101/2021.01.14.426579
Open publication

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High-throughput phenotypic screen for genetic modifiers in patient-derived <i>OPA1</i> mutant fibroblasts identifies <i>PGS1</i> as a functional suppressor of mitochondrial fragmentationDOI 10.1101/2021.01.14.426579
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