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  1. No Access

    Article

    The Machado-Joseph disease deubiquitylase ATX-3 couples longevity and proteostasis

    The deubiquitylating enzyme ataxin 3 causes polyglutamine disease. In Caenorhabditis elegans, an ataxin-3 orthologue cooperates with the ubiquitin-selective chaperone CDC-48/p97 to control lifespan in a manner th...

    Kirsten Kuhlbrodt, Philipp Christoph Janiesch, Éva Kevei… in Nature Cell Biology (2011)

  2. No Access

    Article

    SOX10 mutations in patients with Waardenburg-Hirschsprung disease

    Waardenburg syndrome (WS; deafness with pigmentary abnormalities) and Hirschsprung's disease (HSCR; aganglionic megacolon) are congenital disorders caused by defective function of the embryonic neural crest1,2. W...

    Véronique **ault, Nadège Bondurand, Kirsten Kuhlbrodt, Derk E. Goerich… in Nature Genetics (1998)

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    Article

    High-affinity glutamate transporters in the rat retina: a major role of the glial glutamate transporter GLAST-1 in transmitter clearance

    Glutamate is the major excitatory neurotransmitter of the mammalian retina and glutamate uptake is essential for normal transmission at glutamatergic synapses. The reverse transcriptase-polymerase chain reacti...

    T. Rauen, W. Rowland Taylor, Kirsten Kuhlbrodt… in Cell and Tissue Research (1997)