Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

[1]  B. Ducommun,et al.  Fission yeast Msp1 is a mitochondrial dynamin-related protein. , 1999, Journal of cell science.

[2]  T. Lancet The spectrum of disability , 1999, The Lancet.

[3]  M. Vagefi,et al.  Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. , 1999, Archives of ophthalmology.

[4]  A. M. van der Bliek Functional diversity in the dynamin family. , 1999, Trends in cell biology.

[5]  M. Seller,et al.  Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. , 1999, Ophthalmology.

[6]  B. Ducommun,et al.  Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. , 1998, Biochemical and biophysical research communications.

[7]  A. M. van der Bliek,et al.  A Human Dynamin-related Protein Controls the Distribution of Mitochondria , 1998, The Journal of cell biology.

[8]  M. Votruba,et al.  Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. , 1998, Journal of medical genetics.

[9]  S. Bhattacharya,et al.  Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method , 1998, Human Genetics.

[10]  N. Nomura,et al.  Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. , 1998, DNA research : an international journal for rapid publication of reports on genes and genomes.

[11]  C. Lewis,et al.  Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. , 1997, Journal of medical genetics.

[12]  N. Howell Leber Hereditary Optic Neuropathy: How Do Mitochondrial DNA Mutations Cause Degeneration of the Optic Nerve? , 1997, Journal of bioenergetics and biomembranes.

[13]  M. Votruba,et al.  Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. , 1997, Journal of medical genetics.

[14]  M. Seller,et al.  Dominant optic atrophy, Kjer type. Linkage analysis and clinical features in a large British pedigree. , 1997, Archives of ophthalmology.

[15]  N. Nomura,et al.  Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. , 1997, DNA research : an international journal for rapid publication of reports on genes and genomes.

[16]  V. Sheffield,et al.  Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) , 1997, Archives of ophthalmology.

[17]  T. Rosenberg,et al.  Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. , 2009, Acta ophthalmologica Scandinavica.

[18]  J. Weissenbach,et al.  No evidence of genetic heterogeneity in dominant optic atrophy. , 1995, Journal of medical genetics.

[19]  J. Weissenbach,et al.  Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. , 1995, American journal of human genetics.

[20]  W. Green,et al.  Leber hereditary optic neuropathy. Electron microscopy and molecular genetic analysis of a case. , 1995, Ophthalmology.

[21]  I. Maridonneau-Parini,et al.  Annexin 3 is associated with cytoplasmic granules in neutrophils and monocytes and translocates to the plasma membrane in activated cells. , 1994, The Biochemical journal.

[22]  T. Rosenberg,et al.  Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. , 1994, Human molecular genetics.

[23]  D. Eliott,et al.  Visual prognosis in autosomal dominant optic atrophy (Kjer type). , 1993, American journal of ophthalmology.

[24]  W. L. Fangman,et al.  Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin. , 1992, Genes & development.

[25]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[26]  W. Jaeger Diagnosis of dominant infantile optic atrophy in early childhood. , 1988, Ophthalmic paediatrics and genetics.

[27]  J. Kivlin,et al.  Linkage analysis in dominant optic atrophy. , 1983, American journal of human genetics.

[28]  L. Klinken,et al.  HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHY , 1983, Acta ophthalmologica.

[29]  C. Hoyt,et al.  Autosomal dominant optic atrophy. A spectrum of disability. , 1980, Ophthalmology.

[30]  V. Smith,et al.  A clinicopathologic study of autosomal dominant optic atrophy. , 1979, American journal of ophthalmology.

[31]  D. Minckler,et al.  Necrotizing retinitis caused by opportunistic virus infection in a patient with Hodgkin's disease. , 1979, American journal of ophthalmology.

[32]  D. P. Smith DIAGNOSTIC CRITERIA IN DOMINANTLY INHERITED JUVENILE OPTIC ATROPHY A REPORT OF THREE NEW FAMILIES* , 1972, American journal of optometry and archives of American Academy of Optometry.

[33]  P. Kjer Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. , 1959, Acta ophthalmologica. Supplementum.