OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
暂无分享,去创建一个
S. Bhattacharya | M. Votruba | A. Moore | B. Wissinger | G. Auburger | U. Kellner | D. Thiselton | B. Leo-Kottler | S. Mayer | C. Alexander | M. Rodríguez | U. E. Pesch | A. Moore
[1] T. Rosenberg,et al. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. , 2009, Acta ophthalmologica Scandinavica.
[2] M. McNiven,et al. The dynamin family of mechanoenzymes: pinching in new places. , 2000, Trends in biochemical sciences.
[3] J. Shaw,et al. The dynamin-related GTPase Dnm1 regulates mitochondrial fission in yeast , 1999, Nature Cell Biology.
[4] J. Adamec,et al. Yeast and Human Frataxin Are Processed to Mature Form in Two Sequential Steps by the Mitochondrial Processing Peptidase* , 1999, The Journal of Biological Chemistry.
[5] 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.
[6] M. Yaffe,et al. The Yeast Dynamin-like Protein, Mgm1p, Functions on the Mitochondrial Outer Membrane to Mediate Mitochondrial Inheritance , 1999, The Journal of cell biology.
[7] B. Ducommun,et al. Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance. , 1998, Biochemical and biophysical research communications.
[8] A. M. van der Bliek,et al. A Human Dynamin-related Protein Controls the Distribution of Mitochondria , 1998, The Journal of cell biology.
[9] Y. Kubo,et al. Isolation of a cDNA for a novel 120‐kDa GTP‐binding protein expressed in motor neurons in the salmon brain , 1998, FEBS letters.
[10] F. Fitzke,et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. , 1998, Archives of ophthalmology.
[11] M. Hagiwara,et al. Dymple, a Novel Dynamin-like High Molecular Weight GTPase Lacking a Proline-rich Carboxyl-terminal Domain in Mammalian Cells* , 1998, The Journal of Biological Chemistry.
[12] S. Schmid,et al. Domain structure and intramolecular regulation of dynamin GTPase , 1997, The EMBO journal.
[13] A. Jonasdottir,et al. Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig , 1996, Human Genetics.
[14] 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.
[15] M. Sanders,et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. , 1995, Brain : a journal of neurology.
[16] T. Rosenberg,et al. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. , 1994, Human molecular genetics.
[17] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[18] J. Kivlin,et al. Linkage analysis in dominant optic atrophy. , 1983, American journal of human genetics.
[19] L. Klinken,et al. HISTOPATHOLOGY OF EYE, OPTIC NERVE AND BRAIN IN A CASE OF DOMINANT OPTIC ATROPHY , 1983, Acta ophthalmologica.
[20] C. Hoyt,et al. Autosomal Dominant Optic Atrophy: A Spectrum of Disability , 1980 .
[21] V. Smith,et al. A clinicopathologic study of autosomal dominant optic atrophy. , 1979, American journal of ophthalmology.
[22] Kathryn F. Beal,et al. The Staden package, 1998. , 2000, Methods in molecular biology.
[23] M. Seller,et al. Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. , 1999, Ophthalmology.
[24] M. Suyama,et al. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. , 1998, DNA research : an international journal for rapid publication of reports on genes and genomes.
[25] V. Sheffield,et al. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) , 1997, Archives of ophthalmology.
[26] P Chambon,et al. Organization and expression of eucaryotic split genes coding for proteins. , 1981, Annual review of biochemistry.
[27] D. Harvey,et al. Genetic risks. , 1978, British journal of hospital medicine.