Article
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B.
Brain : a journal of neurology - 1 Jul 2012
Saporta Mario A C, Shy Brian R, Patzko Agnes, Bai Yunhong, Pennuto Maria, Ferri Cinzia, Tinelli Elisa, Saveri Paola, Kirschner Dan, Crowther Michelle, Southwood Cherie, Wu Xingyao, Gow Alexander, Feltri M Laura, Wrabetz Lawrence, Shy Michael E
Abstract excerpt
Mutations in myelin protein zero (MPZ) cause Charcot-Marie-Tooth disease type 1B. Many dominant MPZ mutations, including R98C, present as infantile onset dysmyelinating neuropathies. We have generated an R98C 'knock-in' mouse model of Charcot-Marie-Tooth type 1B, where a mutation encoding R98C was targeted to the mouse Mpz gene. Both heterozygous (R98C/+) and homozygous (R98C/R98C) mice develop weakness, abnormal...
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