Jan Senderek

Summary

Affiliation: Swiss Federal Institute of Technology
Country: Switzerland

Publications

  1. pmc 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
  2. pmc Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
    Jan Senderek
    Institute of Cell Biology, Eidgenossische Technische Hochschule ETH Zurich, Zurich, Switzerland
    Am J Hum Genet 88:162-72. 2011
  3. pmc Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
    Michael Horn
    Department of Biology, Institute of Molecular Health Sciences, Cell Biology, Swiss Federal Institute of Technology, ETH Zurich, 8093 Zurich, Switzerland
    Brain 135:3567-83. 2012
  4. doi 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
  5. doi 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
  6. pmc 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

Detail Information

Publications6

  1. pmc 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...
  2. pmc Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
    Jan Senderek
    Institute of Cell Biology, Eidgenossische Technische Hochschule ETH Zurich, Zurich, Switzerland
    Am J Hum Genet 88:162-72. 2011
    ..Our findings provide further impetus to study the glycobiology of NMJ and synapses in general...
  3. pmc Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
    Michael Horn
    Department of Biology, Institute of Molecular Health Sciences, Cell Biology, Swiss Federal Institute of Technology, ETH Zurich, 8093 Zurich, Switzerland
    Brain 135:3567-83. 2012
    ....
  4. doi 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...
  5. doi 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
    ....
  6. pmc 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...