Associated Papers
Advanced therapies for inherited optic neuropathies.
Wong DCS et al.
Eye (london, England), 2026
Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies.
Garone C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.
Wang H et al.
Orphanet Journal of Rare Diseases, 2025
Disruption of mitochondrial homeostasis and permeability transition pore opening in OPA1 iPSC-derived retinal ganglion cells.
Whitehead M et al.
Acta Neuropathologica Communications, 2025
Technological advances in the diagnosis and management of inherited optic neuropathies.
Britton JOT et al.
Frontiers in Neurology, 2025
The human OPA1delTTAG mutation induces adult onset and progressive auditory neuropathy in mice.
Affortit C et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Audiogram Configuration, Molecular Etiology, and Outcome of Cochlear Implantation in Postlingual Auditory Neuropathy Spectrum Disorder.
Kim Y et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2023
OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion.
Cartes-Saavedra B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Current Advances in Gene Therapies of Genetic Auditory Neuropathy Spectrum Disorder.
Saidia AR et al.
Journal of Clinical Medicine, 2023
Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells.
Sladen PE et al.
Human Molecular Genetics, 2022
CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs.
Sladen PE et al.
Molecular Therapy. Nucleic Acids, 2021
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
High-throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
Cretin E et al.
Embo Molecular Medicine, 2021
Hereditary Optic Neuropathies: Induced Pluripotent Stem Cell-Based 2D/3D Approaches.
García-López M et al.
Genes, 2021
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.
Peron C et al.
Frontiers in Neurology, 2021
OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling.
Cartes-Saavedra B et al.
Frontiers in Cell and Developmental Biology, 2021
Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression.
Napolitano F et al.
American Journal of Medical Genetics. Part A, 2020
Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction.
Maloney DM et al.
Frontiers in Neuroscience, 2020
Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.
Maeda-Katahira A et al.
Molecular Vision, 2019
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
Kane MS et al.
Journal of Cellular and Molecular Medicine, 2017
Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.
Chun BY et al.
Seminars in Pediatric Neurology, 2017
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.
Liao C et al.
Neurology, 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
A neurodegenerative perspective on mitochondrial optic neuropathies.
Yu-Wai-Man P et al.
Acta Neuropathologica, 2016
Therapeutic Approaches to Inherited Optic Neuropathies.
Yu-Wai-Man P
Seminars in Neurology, 2015
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
Roubertie A et al.
Journal of the Neurological Sciences, 2015
Disturbed mitochondrial dynamics and neurodegenerative disorders.
Burté F et al.
Nature Reviews. Neurology, 2015
Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2014
197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies: 26-28 April 2013, Naarden, The Netherlands.
Yu-Wai-Man P et al.
Neuromuscular Disorders : Nmd, 2014
Treatment strategies for inherited optic neuropathies: past, present and future.
Yu-Wai-Man P et al.
Eye (london, England), 2014
Mitochondrial dysfunction affecting visual pathways.
Leruez S et al.
Revue Neurologique, 2014
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Agier V et al.
Biochimica Et Biophysica Acta, 2012
Spinocerebellar ataxia: a rational approach to aetiological diagnosis.
Degardin A et al.
Cerebellum (london, England), 2012
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V et al.
Human Molecular Genetics, 2011
Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P et al.
Eye (london, England), 2011
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2011
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
Yu-Wai-Man P et al.
Human Molecular Genetics, 2010
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
OPA1-associated disorders: phenotypes and pathophysiology.
Amati-Bonneau P et al.
The International Journal of Biochemistry & Cell Biology, 2009
Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
Carelli V et al.
Bioscience Reports, 2007
Dominant optic atrophy: correlation between clinical and molecular genetic studies.
Puomila A et al.
Acta Ophthalmologica Scandinavica, 2005
Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.
Skidd PM et al.
Seminars in Ophthalmology, 0
Deterioration in Distortion Product Otoacoustic Emissions in Auditory Neuropathy Patients With Distinct Clinical and Genetic Backgrounds.
Kitao K et al.
Ear and Hearing, 0