Gene Review:
Smn1 - survival motor neuron 1
Mus musculus
Synonyms:
AI849087, Gemin1, SMN, Smn, Survival motor neuron protein
- Residual Cajal bodies in coilin knockout mice fail to recruit Sm snRNPs and SMN, the spinal muscular atrophy gene product. Tucker, K.E., Berciano, M.T., Jacobs, E.Y., LePage, D.F., Shpargel, K.B., Rossire, J.J., Chan, E.K., Lafarga, M., Conlon, R.A., Matera, A.G. J. Cell Biol. (2001)
- A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy. Monani, U.R., Pastore, M.T., Gavrilina, T.O., Jablonka, S., Le, T.T., Andreassi, C., DiCocco, J.M., Lorson, C., Androphy, E.J., Sendtner, M., Podell, M., Burghes, A.H. J. Cell Biol. (2003)
- Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy. Cifuentes-Diaz, C., Frugier, T., Tiziano, F.D., Lacène, E., Roblot, N., Joshi, V., Moreau, M.H., Melki, J. J. Cell Biol. (2001)
- The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Gabanella, F., Carissimi, C., Usiello, A., Pellizzoni, L. Hum. Mol. Genet. (2005)
- Survival motor neuron (SMN) protein: role in neurite outgrowth and neuromuscular maturation during neuronal differentiation and development. Fan, L., Simard, L.R. Hum. Mol. Genet. (2002)
- A mouse model for spinal muscular atrophy. Hsieh-Li, H.M., Chang, J.G., Jong, Y.J., Wu, M.H., Wang, N.M., Tsai, C.H., Li, H. Nat. Genet. (2000)
- The spinal muscular atrophy disease gene product, SMN, and its associated protein SIP1 are in a complex with spliceosomal snRNP proteins. Liu, Q., Fischer, U., Wang, F., Dreyfuss, G. Cell (1997)
- A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Bussaglia, E., Clermont, O., Tizzano, E., Lefebvre, S., Bürglen, L., Cruaud, C., Urtizberea, J.A., Colomer, J., Munnich, A., Baiget, M. Nat. Genet. (1995)
- A role for polyproline motifs in the spinal muscular atrophy protein SMN. Profilins bind to and colocalize with smn in nuclear gems. Giesemann, T., Rathke-Hartlieb, S., Rothkegel, M., Bartsch, J.W., Buchmeier, S., Jockusch, B.M., Jockusch, H. J. Biol. Chem. (1999)
- The SMN genes are subject to transcriptional regulation during cellular differentiation. Germain-Desprez, D., Brun, T., Rochette, C., Semionov, A., Rouget, R., Simard, L.R. Gene (2001)
- ZPR1 is essential for survival and is required for localization of the survival motor neurons (SMN) protein to Cajal bodies. Gangwani, L., Flavell, R.A., Davis, R.J. Mol. Cell. Biol. (2005)
- Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene. DiDonato, C.J., Chen, X.N., Noya, D., Korenberg, J.R., Nadeau, J.H., Simard, L.R. Genome Res. (1997)
- In vivo kinetics of Cajal body components. Dundr, M., Hebert, M.D., Karpova, T.S., Stanek, D., Xu, H., Shpargel, K.B., Meier, U.T., Neugebauer, K.M., Matera, A.G., Misteli, T. J. Cell Biol. (2004)
- Gene targeting of Gemin2 in mice reveals a correlation between defects in the biogenesis of U snRNPs and motoneuron cell death. Jablonka, S., Holtmann, B., Meister, G., Bandilla, M., Rossoll, W., Fischer, U., Sendtner, M. Proc. Natl. Acad. Sci. U.S.A. (2002)
- Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy. Jablonka, S., Bandilla, M., Wiese, S., Bühler, D., Wirth, B., Sendtner, M., Fischer, U. Hum. Mol. Genet. (2001)
- Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. Nicole, S., Desforges, B., Millet, G., Lesbordes, J., Cifuentes-Diaz, C., Vertes, D., Cao, M.L., De Backer, F., Languille, L., Roblot, N., Joshi, V., Gillis, J.M., Melki, J. J. Cell Biol. (2003)
- Identification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene. Majumder, S., Varadharaj, S., Ghoshal, K., Monani, U., Burghes, A.H., Jacob, S.T. J. Biol. Chem. (2004)
- Ultrastructural characterisation of a nuclear domain highly enriched in survival of motor neuron (SMN) protein. Malatesta, M., Scassellati, C., Meister, G., Plöttner, O., Bühler, D., Sowa, G., Martin, T.E., Keidel, E., Fischer, U., Fakan, S. Exp. Cell Res. (2004)
- A role for complexes of survival of motor neurons (SMN) protein with gemins and profilin in neurite-like cytoplasmic extensions of cultured nerve cells. Sharma, A., Lambrechts, A., Hao, l.e. .T., Le, T.T., Sewry, C.A., Ampe, C., Burghes, A.H., Morris, G.E. Exp. Cell Res. (2005)
- Comparative sequence analysis of the mouse and human Lgn1/SMA interval. Endrizzi, M., Huang, S., Scharf, J.M., Kelter, A.R., Wirth, B., Kunkel, L.M., Miller, W., Dietrich, W.F. Genomics (1999)
- Deficiency of the zinc finger protein ZPR1 causes neurodegeneration. Doran, B., Gherbesi, N., Hendricks, G., Flavell, R.A., Davis, R.J., Gangwani, L. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Lesbordes, J.C., Cifuentes-Diaz, C., Miroglio, A., Joshi, V., Bordet, T., Kahn, A., Melki, J. Hum. Mol. Genet. (2003)
- Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Battaglia, G., Princivalle, A., Forti, F., Lizier, C., Zeviani, M. Hum. Mol. Genet. (1997)
- Development of a gene therapy strategy for the restoration of survival motor neuron protein expression: implications for spinal muscular atrophy therapy. DiDonato, C.J., Parks, R.J., Kothary, R. Hum. Gene Ther. (2003)