Associated Papers
Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
Penon-Portmann M et al.
American Journal of Medical Genetics. Part A, 2025
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A et al.
Neurology. Genetics, 2019
Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
Bourne SC et al.
Cold Spring Harbor Molecular Case Studies, 2017
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Sergouniotis PI et al.
Neurogenetics, 2015
Mitochondrial dynamic changes in health and genetic diseases.
Chen L et al.
Molecular Biology Reports, 2014
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
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Grau T et al.
Journal of Medical Genetics, 2013
Mitochondrial fusion proteins and human diseases.
Ranieri M et al.
Neurology Research International, 2013
OPA3--related autosomal dominant optic atrophy and cataract with ataxia and areflexia.
Ayrignac X et al.
European Neurology, 2012
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
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferré M et al.
Human Mutation, 2009
Costeff optic atrophy syndrome: new clinical case and novel molecular findings.
Ho G et al.
Journal of Inherited Metabolic Disease, 2008
Hereditary optic neuropathies share a common mitochondrial coupling defect.
Chevrollier A et al.
Annals of Neurology, 2008
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
Davies VJ et al.
Brain : a Journal of Neurology, 2008
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier P et al.
Journal of Medical Genetics, 2004
Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.
Bagli E et al.
In Vivo (athens, Greece), 0
A Case Report of Unilateral OPA3-Related Dominant Optic Atrophy.
Ware MA et al.
Case Reports in Ophthalmology, 0