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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.
Simone Schimpf-Linzenbold
Simone Schimpf-Linzenbold

Research Group

Molecular Genetics Laboratory

Contact

University Clinics Tübingen

Centre for Ophthalmology
Institute for Ophthalmic Research
Molecular Genetics Laboratory

Roentgenweg 11
72076 Tuebingen
Germany

Phone: +49-7071-29-84017
Fax: +49-7071-29-5725

Email:
Simone.Schimpf-Linzenbold[at]med.uni-tuebingen.de

Website:
www.mgl-eye-tuebingen.de

Research Groups

People

Related Research Groups

ganglion cells
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disease gene mapping, gene modifiers
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genetics
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linkage analysis
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mitochondria
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mutations
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optic nerve
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retinal degenerations: hereditary
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