Associated Papers
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.
Macuada J et al.
Cell Death & Disease, 2024
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
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy.
Eckmann-Hansen C et al.
Acta Ophthalmologica, 2022
OPA1 Modulates Mitochondrial Ca2+ Uptake Through ER-Mitochondria Coupling.
Cartes-Saavedra B et al.
Frontiers in Cell and Developmental Biology, 2021
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
Roubertie A et al.
Journal of the Neurological Sciences, 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
Treatment strategies for inherited optic neuropathies: past, present and future.
Yu-Wai-Man P et al.
Eye (london, England), 2014
Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.
Yu-Wai-Man P et al.
Ophthalmology, 2013
Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.
Almind GJ et al.
Bmc Medical Genetics, 2012
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
The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
Yu-Wai-Man P et al.
Ophthalmology, 2010
Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P et al.
Brain : a Journal of Neurology, 2010
Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.
Nakamura M et al.
Ophthalmology, 2006
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
Toomes C et al.
Human Molecular Genetics, 2001