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Nature Genetics, ISSN 1061-4036, 08/2015, Volume 47, Issue 8, pp. 926 - 932
Dominant optic atrophy (DOA)(1,2) and axonal peripheral neuropathy (Charcot-Marie-Tooth type 2, or CMT2)(3) are hereditary neurodegenerative disorders most... 
RECRUITMENT | CELLS | MITOCHONDRIAL DYNAMICS | FUSION | NEUROPATHY | ZEBRAFISH | UGO1P | OPA1 | GENETICS & HEREDITY | OUTER | GTPASE | Humans | Optic Atrophy, Autosomal Dominant - metabolism | Embryo, Nonmammalian - metabolism | Phosphate Transport Proteins - metabolism | Cercopithecus aethiops | Embryo, Nonmammalian - embryology | Male | Mitochondrial Proteins - genetics | Zebrafish - embryology | Charcot-Marie-Tooth Disease - genetics | RNA Interference | Mitochondrial Proteins - metabolism | HEK293 Cells | Muscle Proteins - metabolism | Female | Membrane Proteins - metabolism | Optic Atrophy, Autosomal Dominant - pathology | Phosphate Transport Proteins - genetics | Charcot-Marie-Tooth Disease - metabolism | Microscopy, Electron, Transmission | Genetic Predisposition to Disease - genetics | Animals, Genetically Modified | Membrane Proteins - genetics | Saccharomyces cerevisiae Proteins - genetics | Sequence Analysis, DNA | Mitochondrial Membranes - metabolism | Muscle Proteins - genetics | Microscopy, Confocal | Exome - genetics | Animals | Pedigree | Embryo, Nonmammalian - ultrastructure | Zebrafish - metabolism | Optic Atrophy, Autosomal Dominant - genetics | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Mutation | COS Cells | Development and progression | Genetic aspects | Optic atrophy | Gene mutations | Identification and classification | Health aspects | Proteins | Neurodegeneration | Genes | Neurological disorders | Index Medicus
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2/2008, Volume 131, Issue 2, pp. 338 - 351
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic... 
Chronic progressive external ophthalmoplegia | Dominant optic atrophy | Mitochondrial encephalomyopathy | Mitochondria | mtDNA multiple deletions | PROTEIN | mitochondria | NEUROSCIENCES | chronic progressive external ophthalmoplegia | R445H MUTATION | CLINICAL NEUROLOGY | mitochondrial encephalomyopathy | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY | HEARING-LOSS | GENE | DISEASE | dominant optic atrophy | DEAFNESS | FISSION | DELETIONS | Ophthalmoplegia, Chronic Progressive External - pathology | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Mutation, Missense | DNA Mutational Analysis - methods | Ophthalmoplegia, Chronic Progressive External - genetics | DNA, Mitochondrial - genetics | Base Sequence | Muscle, Skeletal - chemistry | Adult | Female | Optic Atrophy, Autosomal Dominant - pathology | Child | Muscle, Skeletal - ultrastructure | Models, Molecular | Fibroblasts - pathology | Mitochondrial Myopathies - pathology | Syndrome | Magnetic Resonance Imaging | Point Mutation | Mitochondrial Myopathies - genetics | GTP Phosphohydrolases - genetics | Pedigree | Optic Atrophy, Autosomal Dominant - genetics | Aged | Index Medicus | Abridged Index Medicus | GTP Phosphohydrolases | Neurons and Cognition | DNA, Mitochondrial | Life Sciences | DNA Mutational Analysis | Fibroblasts | Optic Atrophy, Autosomal Dominant | Mitochondrial Myopathies | Ophthalmoplegia, Chronic Progressive External | Muscle, Skeletal
Journal Article
Journal Article
Journal Article
BRAIN, ISSN 0006-8950, 10/2017, Volume 140, pp. 2586 - 2596
Dominant optic atrophy is a blinding disease due to the degeneration of the retinal ganglion cells, the axons of which form the optic nerves. In most cases,... 
INSTABILITY | mitochondria | PHENOTYPE | NEURODEGENERATION | DEFICIENCIES | NEUROSCIENCES | DIVISION | CLINICAL NEUROLOGY | DRP1 | ENCEPHALOPATHY | NEUROPATHY | OPA1 | GENE | MITOFUSIN-2 | EARLY-ONSET | dominant optic atrophy | DNM1L
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 1 - 10
Journal Article