Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy.
Ding C et al.
The Journal of Clinical Investigation, 2025
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation.
Zhang K et al.
Journal of Translational Medicine, 2025
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.
Aleo SJ et al.
Human Molecular Genetics, 2021
Structural insights into G domain dimerization and pathogenic mutation of OPA1.
Yu C et al.
The Journal of Cell Biology, 2020
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.
Zhang AM et al.
Molecular Neurobiology, 2017
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
Loo JL et al.
Eye (london, England), 2017
Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.
Li Y et al.
Plos One, 2017
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
Santarelli R et al.
Brain : a Journal of Neurology, 2015
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.
Yu-Wai-Man P et al.
Ophthalmology, 2013
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy.
Gallus GN et al.
Clinical Genetics, 2012
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Schimpf S et al.
Human Mutation, 2008
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
Davies VJ et al.
Human Molecular Genetics, 2007
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Olichon A et al.
Journal of Cellular Physiology, 2007
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C et al.
Human Genetics, 2001
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch UE et al.
Human Molecular Genetics, 2001
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C et al.
Human Molecular Genetics, 2001
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander C et al.
Nature Genetics, 2000
Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.
Russo A et al.
Ophthalmic Genetics, 0