Department of Neurology -
Prof. Dr. G. Auburger

Expertise

Parkinson: alpha-synuclein (PARK1) in transgenic and knock-out mouse models and human tissues, behavioral / clinical phenotype, positional cloning of the Park6 gene, subcellular studies on the Park6 protein Pink1 and characterization of the mitochondrial dysfunction in Park6
SCA2 (Spinocerebellar Ataxia 2): clinical picture, chromosomal mapping, positional cloning, identification of the disease gene, neuropathological characterization, transgenic and conditional knock-out mouse model, cell-culture model, protein-interaction studies, microarray-analysis of the transcription profile.
Spastic paraplegia: Positional cloning and mutation analysis of the SPG3A gene, atlastin expression, function and protein interaction.
Dystonia: Linkage and linkage dysequilibrium studies, mutation analysis of DYT7.
HD (Huntington's disease): transcription profile in human presymptomatic HD brains, transcription profile in mouse models.
Stroke genetics (macroangiopathy): inheritance of Willis circle variants, inheritance of vertebral artery hypoplasias (parametric linkage approach), inheritance of intracranial aneurysms (concordant and discordant sib-pair as well as case-control approach).

Resources and Abilities

Sequencing / genotyping facility with ABI377 and ABI5700Taqman
Cell culture facility with Axiovert200M and in-vivo-imaging
Recombinant mouse facility with behaviour tests

Publications

Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernandez A, Margariño C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farrall M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund H-J, Williamson R, Auburger G§, Chamberlain S§ (1993) Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar ataxia (SCA2) to human chromosome 12q23-24.1. Nature Genetics, 4:295-299.
Pulst S, Nechiporuk A, Nechiporuk T, Gispert S, Chen X, Lopes-Cendes I, Pearlman S, Starkman S, Orozco G, Lunkes A, de Jong P, Rouleau G, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in Spinocerebellar ataxia 2. Nature Genetics 14:269-276.
Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R und Auburger G (1996) Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 5:1673-1677.
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) A mutation in the Ubiquitin-hydrolase L1 gene in a family with Parkinson’s disease suggests a role for the ubiquitin pathway in neurodegenerative disorders. Nature 395:451-2.
Paternotte C, Rudnicki D, Fizames C, Davoine C-S, Mavel D, Durr A, Samson D, Marquette C, Muselet D, Vega-Czarny N, Drouot N, Voit T, Fontaine B, Gyapay G, Auburger G, Weissenbach J, Hazan J (1998) Critical assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q. Genome Res, 8:1216-1227.
Alexander C, Votruba M, Pesch UEA, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B (2000) A gene encoding a dynamin-related GTPase is mutated in autosomal dominant optic atrophy (OPA1) linked to chromosome 3q28. Nature Genetics 26:211-5.
Gispert S, Del Turco D, Garrett L, Chen A, Bernard D, Hamm-Clement J, Korf HW, Deller T, Braak H, Auburger G§, Nussbaum RL§ (2003) Transgenic mice expressing mutant A53T human alpha synuclein show neuronal dysfunction in the absence of aggregate formation. Mol Cell Neurosci, 24:419-29.
Valente EM, Abou-Sleiman PM, Caputo V, Muquit MMK, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G§, Wood NW§ (2004) Hereditary early-onset Parkinson’s disease is caused by mutations in PINK1. Science, 304(5674):1158-60.
Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwieciski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, van Bogaert P, Abramovic MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptacek LJ (2004) The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet, 13 (24):3161-70.
Cabin DE, Gispert S, Murphy D, Auburger/ G/, Myers R, Nussbaum RL (2005) Exacerbated synucleinopathy in mice expressing A53T SNCA on a Snca null background. Neurobiol Aging, 26:25-35.