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
Inborn errors of metabolism associated with 3-methylglutaconic aciduria.
Jones DE et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss.
Collin GB et al.
Cells, 2020
Autosomal dominant optic atrophy and cataract "plus" phenotype including axonal neuropathy.
Horga A et al.
Neurology. Genetics, 2019
Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity.
Navein AE et al.
Human Molecular Genetics, 2016
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
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
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
Yu-Wai-Man P et al.
Progress in Retinal and Eye Research, 2011
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Pei W et al.
Development (cambridge, England), 2010
Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation.
Ryu SW et al.
Cellular and Molecular Life Sciences : Cmls, 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
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
Davies VJ et al.
Brain : a Journal of Neurology, 2008
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