Associated Papers
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A et al.
Neurology. Genetics, 2019
Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.
Lam C et al.
Molecular Genetics and Metabolism Reports, 2014
Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.
Mendelsohn BA et al.
Jimd Reports, 2014
Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III.
Powell KA et al.
Investigative Ophthalmology & Visual Science, 2011
A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle.
Owczarek-Lipska M et al.
Genomics, 2011
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Pei W et al.
Development (cambridge, England), 2010
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Huizing M et al.
Molecular Genetics and Metabolism, 2010
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G et al.
Journal of Inherited Metabolic Disease, 2008
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