Claudia Stendel

Summary

Affiliation: Swiss Federal Institute of Technology
Country: Switzerland

Publications

  1. ncbi SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
    Claudia Stendel
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Brain 133:2462-74. 2010
  2. ncbi Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
    Claudia Stendel
    Institute of Cell Biology, ETH Zurich, Schafmattstrasse 18, CH 8093 Zurich, Switzerland
    Am J Hum Genet 81:158-64. 2007
  3. ncbi Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
    Jan Senderek
    Institute of Cell Biology, ETH Zurich, 8093 Zurich, Switzerland
    Am J Hum Genet 84:511-8. 2009
  4. ncbi Small Rho GTPases are key regulators of peripheral nerve biology in health and disease
    Sven Krause
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    J Peripher Nerv Syst 13:188-99. 2008
  5. ncbi Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
  6. ncbi Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2
    Jutta Kirfel
    Institute of Pathology, University of Bonn, Bonn, Germany
    Gene Expr Patterns 6:978-84. 2006

Detail Information

Publications6

  1. ncbi SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
    Claudia Stendel
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Brain 133:2462-74. 2010
    ..Our data indicate that the SH3TC2/Rab11 interaction is relevant for peripheral nerve pathophysiology and place endosomal recycling on the list of cellular mechanisms involved in Schwann cell myelination...
  2. ncbi Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
    Claudia Stendel
    Institute of Cell Biology, ETH Zurich, Schafmattstrasse 18, CH 8093 Zurich, Switzerland
    Am J Hum Genet 81:158-64. 2007
    ..These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system...
  3. ncbi Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
    Jan Senderek
    Institute of Cell Biology, ETH Zurich, 8093 Zurich, Switzerland
    Am J Hum Genet 84:511-8. 2009
    ..Our data establish proof of principle that the nuclear matrix is crucial for normal skeletal muscle structure and function and put VCPDM on the growing list of monogenic disorders associated with the nuclear proteome...
  4. ncbi Small Rho GTPases are key regulators of peripheral nerve biology in health and disease
    Sven Krause
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    J Peripher Nerv Syst 13:188-99. 2008
    ....
  5. ncbi Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    ..Comparative sequence alignments indicate that members of this protein family contain multiple SH3 and TPR domains that are likely involved in the formation of protein complexes...
  6. ncbi Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2
    Jutta Kirfel
    Institute of Pathology, University of Bonn, Bonn, Germany
    Gene Expr Patterns 6:978-84. 2006
    ..Taken together, this study provides information about the mRNA expression and subcellular localization of Sbf2 and as such helps in further understanding its function in development and disease...