Simone Schimpf-Linzenbold

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

1. 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.
2. 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.
3. 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.
4. 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.