Manuel Fischer

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BACKGROUND Optical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration. METHODOLOGY/PRINCIPAL FINDINGS We achieved to adapt a commercial 3(rd) generation OCT system to obtain and quantify high-resolution(More)
Duchenne's muscular dystrophy (DMD) is a fatal neuromuscular disease caused by absence of dystrophin. Utrophin is a chromosome 6-encoded dystrophin-related protein (DRP), sharing functional motifs with dystrophin. Utrophin's ability to compensate for dystrophin during development and when transgenically overexpressed has provided an important impetus for(More)
Congenital absence of cone photoreceptor function is associated with strongly impaired daylight vision and loss of color discrimination in human achromatopsia. Here, we introduce viral gene replacement therapy as a potential treatment for this disease in the CNGA3(-/-) mouse model. We show that such therapy can restore cone-specific visual processing in the(More)
PURPOSE Spectral domain optical coherence tomography (SD-OCT) allows cross-sectional visualization of retinal structures in vivo. Here, the authors report the efficacy of a commercially available SD-OCT device to study mouse models of retinal degeneration. METHODS C57BL/6 and BALB/c wild-type mice and three different mouse models of hereditary retinal(More)
The essential oxidoreductase Mia40/CHCHD4 mediates disulfide bond formation and protein folding in the mitochondrial intermembrane space. Here, we investigated the interactome of Mia40 thereby revealing links between thiol-oxidation and apoptosis, energy metabolism, and Ca(2+) signaling. Among the interaction partners of Mia40 is MICU1-the regulator of the(More)
The extraocular muscles (EOM) are anatomically and physiologically distinct from other skeletal muscles. EOM are preferentially affected in mitochondrial myopathies, but spared in Duchenne's muscular dystrophy. The anatomical and pathophysiological properties of EOM have been attributed to their unique molecular makeup: an allotype. We used expression(More)
Failure mode and effects analysis (FMEA) is a technique to reason about possible system hazards that result from system or system component failures. Traditionally, FMEA does not take the probabilities with which these failures may occur into account. Recently, this shortcoming was addressed by integrating stochastic model checking techniques into the FMEA(More)
The intermembrane space of mitochondria contains a dedicated machinery for the introduction of disulfide bonds into proteins. In this case, oxidative protein folding is believed to drive the vectorial translocation of polypeptides after their synthesis in the cytosol across the mitochondrial outer membrane. Substrates of this system are recognized by a(More)
Oxidative stress is counteracted by various cellular systems, including copper-zinc superoxide dismutase 1 (SOD1) and its activating chaperone, that is, the copper chaperone for SOD1 (CCS1). Both enzymes are structurally related, and both localize to the cytosol and the mitochondrial intermembrane space where they specifically counteract(More)