Browse by Research Team

Article

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
Fuhrmann, N., Schimpf, S., Kamenisch, Y., Leo-Kottler, B., Alexander, C., Auburger, G., Zrenner, E., Wissinger, B. and Alavi, M.V.
Molecular Neurodegeneration 5 (1): 25. 14 June 2010

SLP-2 is required for stress-induced mitochondrial hyperfusion.
Tondera, D., Grandemange, S., Jourdain, A., Karbowski, M., Mattenberger, Y., Herzig, S., Da Cruz, S., Clerc, P., Raschke, I., Merkwirth, C., Ehses, S., Krause, F., Chan, D.C., Alexander, C., Bauer, C., Youle, R., Langer, T. and Martinou, J.C.
EMBO Journal 28 (11): 1589-1600. 3 June 2009

Characterization of OPA1 isoforms isolated from mouse tissues.
Akepati, V.R., Mueller, E.C., Otto, A., Strauss, H., Portwich, M. and Alexander, C.
Journal of Neurochemistry 106 (1): 372-383. July 2008

OPA1 processing controls mitochondrial fusion and is regulated by mRNA splicing, membrane potential, and Yme1L.
Song, Z., Chen, H., Fiket, M., Alexander, C. and Chan, D.C.
Journal of Cell Biology 178 (5): 749-755. 27 August 2007

Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity.
Lorenz, S., Heils, A., Taylor, K.P., Gehrmann, A., Muhle, H., Gresch, M., Becker, T., Tauer, U., Stephani, U. and Sander, T.
Neuroscience Letters 397 (3): 234-239. 24 April 2006

OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.
Pesch, U.E.A., Fries, J.E., Bette, S., Kalbacher, H., Wissinger, B., Alexander, C. and Kohler, K.
Investigative Ophthalmology & Visual Science 45 (11): 4217-4225. 1 January 2004

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
Thiselton, D.L., Alexander, C., Taanman, J.W., Brooks, S., Rosenberg, T., Eiberg, H., Andreasson, S., Van Regemorter, N., Munier, F.L., Moore, A.T., Bhattacharya, S.S. and Votruba, M.
Investigative Ophthalmology & Visual Science 43 : 1715-1724. 1 June 2002

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Aung, T., Ocaka, L., Ebenezer, N.D., Morris, A.G., Krawczak, M., Thiselton, D.L., Alexander, C., Votruba, M., Brice, G., Child, A.H., Francis, P.J., Hitchings, R.A., Lehmann, O.J. and Bhattacharya, S.S.
Human Genetics 110 : 52-56. 1 January 2002

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
Thiselton, D.L., Alexander, C., Morris, A., Brooks, S., Rosenberg, T., Eiberg, H., Kjer, B., Kjer, P., Bhattacharya, S.S. and Votruba, M.
Human Genetics 109 : 498-502. 1 November 2001

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch, U.E., Leo-Kottler, B., Mayer, S., Jurklies, B., Kellner, U., Apfelstedt-Sylla, E., Zrenner, E., Alexander, C. and Wissinger, B.
Human Molecular Genetics 10 : 1359-1368. 15 June 2001

Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes.
Alexander, C., Bernstein, S.L., Rocchi, M. and Auburger, G.
European Journal of Human Genetics 9 : 307-310. 1 April 2001

Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands.
Aguiar, J., Santurlidis, S., Nowok, J., Alexander, C., Rudnicki, D., Gispert, S., Schulz, W. and Auburger, G.
Biochemical and Biophysical Research Communications 254 : 315-318. 1 January 1999

Characterization of protein-binding to the spinach chloroplast psbA mRNA 5' untranslated region.
Alexander, C., Faber, N. and Klaff, P.
Nucleic Acids Research 26 (10): 2265-2272. 15 May 1998

Fine scale mapping places DLG1, the gene encoding hDlg, telomeric to the OPA1 candidate region.
Alexander, C., Stathakis, D.G., Lin, L., Rahman, S., Bryant, P.J., Auburger, G. and Chishti, A.H.
Mammalian Genome 8 : 795-796. 1 October 1997

Thesis

Molekulargenetische Identifizierung von Determinanten der photoparoxysmalen Reaktion.
Lorenz, S.
UNSPECIFIED thesis, UNSPECIFIED. 25 July 2006

Letter

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Alexander, C., Votruba, M., Pesch, U.E., Thiselton, D.L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S.S. and Wissinger, B.
Nature Genetics 26 : 211-215. 1 October 2000

Editorial

Report of the sixth international workshop on human chromosome 3 mapping 1995.
Naylor, S.L., Carritt, B., Boileau, C., Beroud, C., Alexander, C., Allderdice, P., Alimov, A., Ashworth, T., Bonifas, J., Bugert, P., Buys, C.H., Chipperfield, M.A., Deng, G., Drabkin, H., Gemmill, R.M., Grompe, M., Joensuu, T., Jonasdottir, A., Gizatullin, R., Krols, L., Leach, R.J., Lott, S.T., Killary, A., Martinsson, T. and Messiaen, L.
Cytogenetics and Cell Genetics 72 : 255-270. 1 January 1996