Article
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Proceedings of the National Academy of Sciences of the United States of America - 13 Oct 2009
Arnaud Estelle, Zenker Jennifer, de Preux Charles Anne-Sophie, Stendel Claudia, Roos Andreas, Médard Jean-Jacques, Tricaud Nicolas, Kleine Henning, Luscher Bernhard, Weis Joachim, Suter Ueli, Senderek Jan, Chrast Roman
Abstract excerpt
Charcot-Marie-Tooth disease type 4C (CMT4C) is an early-onset, autosomal recessive form of demyelinating neuropathy. The clinical manifestations include progressive scoliosis, delayed age of walking, muscular atrophy, distal weakness, and reduced nerve conduction velocity. The gene mutated in CMT4C disease, SH3TC2/KIAA1985, was recently identified; however, the function of the protein it encodes remains unknown....
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