Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

Claudia Stendel*, Andreas Roos, Tine Deconinck, Jorge Pereira, François Castagner, Axel Niemann, Janbernd Kirschner, Rudolf Korinthenberg, Uwe Peter Ketelsen, Esra Battaloglu, Yesim Parman, Garth Nicholson, Robert Ouvrier, Jürgen Seeger, Peter De Jonghe, Joachim Weis, Alexander Krüttgen, Sabine Rudnik-Schöneborn, Carsten Bergmann, Ueli Suter & 4 others Klaus Zerres, Vincent Timmerman, João B. Relvas, Jan Senderek

*Corresponding author for this work

Research output: Contribution to journalArticle

99 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)158-164
Number of pages7
JournalAmerican Journal of Human Genetics
Volume81
Issue number1
DOIs
Publication statusPublished - Jul 2007
Externally publishedYes

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    Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., ... Senderek, J. (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. https://doi.org/10.1086/518770