Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B

Neuromuscular Disorders - Tập 16 - Trang 183-187 - 2006
Gian Maria Fabrizi1, Maria Pellegrini1, Chiara Angiari1, Tiziana Cavallaro1, Alberto Morini2, Federica Taioli1, Ilaria Cabrini1, Daniele Orrico2, Nicolò Rizzuto1
1Section of Clinical Neurology, Department of Neurological and Visual Sciences, University of Verona, Policlinico G.B. Rossi, P.le L.A. Scuro 10, 37134 Verona, Italy
2Division of Neurology, Civic Hospital “Santa Chiara”, Trento, Italy

Tài liệu tham khảo

Shy, 2004, Phenotypic clustering in MPZ mutations, Brain, 127, 1, 10.1093/brain/awh048 Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4 Ikegami, 1996, A novel homozygous mutation of the myelin P0 gene producing Dejerine-Sottas disease (Hereditary Motor and Sensory Neuropathy type III), Biochem Biophys Res Commun, 222, 107, 10.1006/bbrc.1996.0705 Pareyson, 1999, Charcot-Marie-Tooth disease type 2 and P0 gene mutations, Neurology, 52, 1110, 10.1212/WNL.52.5.1106-f Leal, 2003, Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ,P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family, Neurogenetics, 4, 191, 10.1007/s10048-003-0153-0 Fabrizi, 2001, A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B, Neurology, 57, 101, 10.1212/WNL.57.1.101 Xu, 2001, Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination, J Cell Biol, 155, 439, 10.1083/jcb.200107114 Sander, 2000, Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies, J Neurol Neurosurg Psychiatry, 68, 483, 10.1136/jnnp.68.4.483 Martini, 1995, Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies, Nat Genet, 11, 281, 10.1038/ng1195-281 Wong, 1996, Dominant-negative effect on adhesion by myelin P0 protein truncated in its cytoplasmic domain, J Cell Biol, 134, 1531, 10.1083/jcb.134.6.1531