Article
Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.
Human molecular genetics - 1 Nov 2002
Brownlees Janet, Ackerley Steven, Grierson Andrew J, Jacobsen Nick J O, Shea Kerry, Anderton Brian H, Leigh P Nigel, Shaw Christopher E, Miller Christopher C J
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system, and mutations in neurofilaments have been linked to some forms of CMT. Neurofilaments are the major intermediate filaments of neurones, but the mechanisms by which the CMT mutations induce disease are not known. Here, we demonstrate that CMT mutant neurofilaments disrupt both neurofilament assembly and axonal...
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