Article
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
Brain : a journal of neurology - 1 Aug 2010
Stendel Claudia, Roos Andreas, Kleine Henning, Arnaud Estelle, Ozçelik Murat, Sidiropoulos Páris N M, Zenker Jennifer, Schüpfer Fanny, Lehmann Ute, Sobota Radoslaw M, Litchfield David W, Lüscher Bernhard, Chrast Roman, Suter Ueli, Senderek Jan
Abstract excerpt
Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination. SH3TC2 expression is restricted to Schwann cells in the peripheral nervous system, and the gene product, SH3TC2, localizes to the perinuclear recycling compartment. Here, we show that SH3TC2 interacts with the small guanosine triphosphatase Rab11, which is known...
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