Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63

Clinical Neurology and Neurosurgery - Tập 114 - Trang 124-129 - 2012
Kon-Ping Lin1,2, Bing-Wen Soong1,2, Ming-Hong Chang1,3, Wei-Ta Chen1,2, Jer-Li Lin2, Wei-Ju Lee1,3, Yi-Chung Lee1,2
1Department of Neurology, National Yang-Ming University School of Medicine, Taipei, Taiwan
2Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan
3Section of Neurology, Taichung Veterans General Hospital, Taichung, Taiwan

Tài liệu tham khảo

Shy, 2004, Phenotypic clustering in MPZ mutations, Brain, 127, 371, 10.1093/brain/awh048 Greenfield, 1973, Protein composition of myelin of the peripheral nerve system, J Neurochem, 20, 1207, 10.1111/j.1471-4159.1973.tb00089.x Lemke, 1988, Isolation and analysis of the gene encoding peripheral myelin protein zero, Neuron, 1, 73, 10.1016/0896-6273(88)90211-5 Quarles, 2002, Myelin sheaths: glycoprotein involved in their formation, maintenance and degeneration, Cell Mol Life Sci, 59, 1851, 10.1007/PL00012510 Shapiro, 1996, Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin, Neuron, 17, 35, 10.1016/S0896-6273(00)80176-2 Ding, 1994, The cytoplasmic domain of myelin glycoprotein P0 interacts with the negatively charged phopholipid bilayers, J Biol Chem, 269, 10764, 10.1016/S0021-9258(17)34125-X Matsuyama, 2002, Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot–Marie–Tooth disease 1B, Acta Neuropathol (Berl), 103, 501, 10.1007/s00401-001-0497-1 Ekici, 2002, Tracing myelin protein zero (P0) in vivo by construction of P0–GFP fusion proteins, BMC Cell Biol, 3, 29, 10.1186/1471-2121-3-29 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 Kimura, 2005, Nerve conduction and needle electromyography, 899 Latour, 2001, Polymorphic short tandem repeats for diagnosis of the Charcot–Marie–Tooth 1A duplication, Clin Chem, 47, 829, 10.1093/clinchem/47.5.829 Nelis, 1994, Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene, Hum Genet, 94, 653, 10.1007/BF00206959 Larkin, 2007, Clustal W and Clustal X version 2.0, Bioinformatics, 23, 2947, 10.1093/bioinformatics/btm404 Lee, 2008, MPZ mutation G123S characterization: evidence for a complex pathogenesis in CMT disease, Neurology, 70, 273, 10.1212/01.wnl.0000296828.66915.bf Gabreëls-Festen, 1996, Two divergent types of nerve pathology in patients with different P0 mutations in Charcot–Marie–Tooth disease, Neurology, 47, 761, 10.1212/WNL.47.3.761 Roa, 1996, Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot–Marie–Tooth disease, Hum Mutat, 7, 36, 10.1002/(SICI)1098-1004(1996)7:1<36::AID-HUMU5>3.0.CO;2-N Tyson, 1997, Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome, Brain, 120, 47, 10.1093/brain/120.1.47 Shames, 2003, Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot–Marie–Tooth-Related Disease, J Neuropathol Exp Neurol, 62, 751, 10.1093/jnen/62.7.751 Konde, 2006, Myelin protein zero: mutations in the cytoplasmic domain interfere with its cellular trafficking, J Neurosci Res, 83, 957, 10.1002/jnr.20793 Grandis, 2008, Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations, Hum Mol Genet, 17, 1877, 10.1093/hmg/ddn083 Khajavi, 2005, Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants, Am J Hum Genet, 77, 841, 10.1086/497541 Wrabetz, 2006, Different intracellular pathomechanisms produce diverse myelin protein zero neuropathies in transgenic mice, J Neurosci, 26, 2358, 10.1523/JNEUROSCI.3819-05.2006 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 D’Urso, 1990, Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence of homotypic interaction, Neuron, 4, 449, 10.1016/0896-6273(90)90057-M Filbin, 1991, The role of complex carbohydrates in adhesion of the myelin protein, P0, Neuron, 7, 845, 10.1016/0896-6273(91)90286-9 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