Current Research Projects
- Promoter studies
- eQTL studies
- Mutation screening
Methodology
- DNA and RNA isolation
- PCR
- RT-PCR
- RACE
- sequencing
- cloning
- pyrosequencing
- dHPLC
- linkage analysis
- cell culture
- reporter gene assay
Selected Publications
- Schimpf S, Schaich S, Wissinger B
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Hum Genet (2006) 118(6): 767-71. - Schimpf S, Fuhrmann N, Schaich S, Wissinger B
A comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Hum Mut. (2008) 29(1):106-112. - Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peter T, Laufs J, Wissinger B
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Brain (2007) 130(Pt 4):1029-1042. - Leo-Kottler B, Jägle H; Küpker T, Schimpf S
Autosomal dominant erbliche Optikusatrophie versus Lebersche Optikusneuropathie - wie kann man sie unterscheiden?
Ophthalmologe. (2007) 104(12):1060-1065.
Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Brain. (2008) 131(Pt2):352-367.
Simone Schimpf-Linzenbold |
Research Group
Molecular Genetics Laboratory
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