Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 |
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Authors: | Stendel Claudia Roos Andreas Deconinck Tine Pereira Jorge Castagner Francois Niemann Axel Kirschner Janbernd Korinthenberg Rudolf Ketelsen Uwe-Peter Battaloglu Esra Parman Yesim Nicholson Garth Ouvrier Robert Seeger Jürgen De Jonghe Peter Weis Joachim Krüttgen Alexander Rudnik-Schöneborn Sabine Bergmann Carsten Suter Ueli Zerres Klaus Timmerman Vincent Relvas João B Senderek Jan |
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Institution: | Institute of Cell Biology, ETH Zürich, Schafmattstrasse 18, CH-8093 Zürich, Switzerland. claudia.stendel@cell.biol.ethz.ch |
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Abstract: | GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. 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. |
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