Gene Review:
MAD2L1BP - MAD2L1 binding protein
Homo sapiens
Synonyms:
CMT2, Caught by MAD2 protein, KIAA0110, MAD2L1-binding protein, dJ261G23.1
- Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D. Nagamatsu, M., Jenkins, R.B., Schaid, D.J., Klein, D.M., Dyck, P.J. Arch. Neurol. (2000)
- Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Ben Othmane, K., Middleton, L.T., Loprest, L.J., Wilkinson, K.M., Lennon, F., Rozear, M.P., Stajich, J.M., Gaskell, P.C., Roses, A.D., Pericak-Vance, M.A. Genomics (1993)
- Novel C59T leader peptide mutation in the MPZ gene associated with late-onset, axonal, sensorimotor polyneuropathy. Finsterer, J., Miltenberger, G., Rauschka, H., Janecke, A. Eur. J. Neurol. (2006)
- The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy. Boerkoel, C.F., Takashima, H., Lupski, J.R. Current neurology and neuroscience reports. (2002)
- Charcot-Marie-Tooth disease type 2 with restless legs syndrome. Gemignani, F., Marbini, A., Di Giovanni, G., Salih, S., Terzano, M.G. Neurology (1999)
- Conformation-specific binding of p31(comet) antagonizes the function of Mad2 in the spindle checkpoint. Xia, G., Luo, X., Habu, T., Rizo, J., Matsumoto, T., Yu, H. EMBO J. (2004)
- Identification of a MAD2-binding protein, CMT2, and its role in mitosis. Habu, T., Kim, S.H., Weinstein, J., Matsumoto, T. EMBO J. (2002)
- Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. Senderek, J., Hermanns, B., Lehmann, U., Bergmann, C., Marx, G., Kabus, C., Timmerman, V., Stoltenburg-Didinger, G., Schröder, J.M. Brain Pathol. (2000)
- Phenotypic clustering in MPZ mutations. Shy, M.E., Jáni, A., Krajewski, K., Grandis, M., Lewis, R.A., Li, J., Shy, R.R., Balsamo, J., Lilien, J., Garbern, J.Y., Kamholz, J. Brain (2004)
- A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Ismailov, S.M., Fedotov, V.P., Dadali, E.L., Polyakov, A.V., Van Broeckhoven, C., Ivanov, V.I., De Jonghe, P., Timmerman, V., Evgrafov, O.V. Eur. J. Hum. Genet. (2001)
- Comparison of CMT1A and CMT2: similarities and differences. Bienfait, H.M., Verhamme, C., van Schaik, I.N., Koelman, J.H., de Visser, B.W., de Haan, R.J., Baas, F., van Engelen, B.G., de Visser, M. J. Neurol. (2006)
- Charcot-Marie-Tooth disease type 2. Vance, J.M. Ann. N. Y. Acad. Sci. (1999)
- Tetracycline derivatives induce apoptosis selectively in cultured monocytes and macrophages but not in mesenchymal cells. Bettany, J.T., Wolowacz, R.G. Adv. Dent. Res. (1998)