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Biochemical and Biophysical Research Communications

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. and Santurlidis, S. and Nowok, J. and Alexander, C. and Rudnicki, D. and Gispert, S. and Schulz, W. and Auburger, G.
Biochemical and Biophysical Research Communications 254 : 315-318. 1 January 1999

Cytogenetics and Cell Genetics

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

EMBO Journal

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

European Journal of Human Genetics

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. and Bernstein, S.L. and Rocchi, M. and Auburger, G.
European Journal of Human Genetics 9 : 307-310. 1 April 2001

Human Genetics

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
Aung, T. and Ocaka, L. and Ebenezer, N.D. and Morris, A.G. and Krawczak, M. and Thiselton, D.L. and Alexander, C. and Votruba, M. and Brice, G. and Child, A.H. and Francis, P.J. and Hitchings, R.A. and 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. and Alexander, C. and Morris, A. and Brooks, S. and Rosenberg, T. and Eiberg, H. and Kjer, B. and Kjer, P. and Bhattacharya, S.S. and Votruba, M.
Human Genetics 109 : 498-502. 1 November 2001

Human Molecular Genetics

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

Investigative Ophthalmology & Visual Science

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. and Fries, J.E. and Bette, S. and Kalbacher, H. and Wissinger, B. and 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. and Alexander, C. and Taanman, J.W. and Brooks, S. and Rosenberg, T. and Eiberg, H. and Andreasson, S. and Van Regemorter, N. and Munier, F.L. and Moore, A.T. and Bhattacharya, S.S. and Votruba, M.
Investigative Ophthalmology & Visual Science 43 : 1715-1724. 1 June 2002

Journal of Cell Biology

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

Journal of Neurochemistry

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

Mammalian Genome

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

Molecular Neurodegeneration

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

Nature Genetics

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

Neuroscience Letters

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

Nucleic Acids Research

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

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