Gene Review:
SMN1 - survival of motor neuron 1, telomeric
Homo sapiens
Synonyms:
BCD541, GEMIN1, SMA, SMA1, SMA2, ...
Ogino,
Wilson,
Savas,
Eraslan,
Kantarci,
Karaman,
Acarsoz,
Tükel,
Cogulu,
Ozkinay,
Basaran,
Aydinli,
Yuksel-Apak,
Kirdar,
Sangiuolo,
Filareto,
Spitalieri,
Scaldaferri,
Mango,
Bruscia,
Citro,
Brunetti,
De Felici,
Novelli,
Schmalbruch,
Haase,
Ogino,
Wilson,
Gold,
Tarnopolsky,
Bourgeois,
Fu,
Kataeva,
Shah,
Simon,
Mahoney,
Johns,
MacKay,
Robinson,
Jarecki,
Chen,
Bernardino,
Coovert,
Whitney,
Burghes,
Stack,
Pollok,
Echaniz-Laguna,
Guiraud-Chaumeil,
Tranchant,
Reeber,
Melki,
Warter,
Brunhilde Wirth,
- 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)
- A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Kashima, T., Manley, J.L. Nat. Genet. (2003)
- Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Feldkötter, M., Schwarzer, V., Wirth, R., Wienker, T.F., Wirth, B. Am. J. Hum. Genet. (2002)
- Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Wirth, B., Herz, M., Wetter, A., Moskau, S., Hahnen, E., Rudnik-Schöneborn, S., Wienker, T., Zerres, K. Am. J. Hum. Genet. (1999)
- Diverse small-molecule modulators of SMN expression found by high-throughput compound screening: early leads towards a therapeutic for spinal muscular atrophy. Jarecki, J., Chen, X., Bernardino, A., Coovert, D.D., Whitney, M., Burghes, A., Stack, J., Pollok, B.A. Hum. Mol. Genet. (2005)
- Spinal muscular atrophy: present state. Schmalbruch, H., Haase, G. Brain Pathol. (2001)
- Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. Echaniz-Laguna, A., Guiraud-Chaumeil, C., Tranchant, C., Reeber, A., Melki, J., Warter, J.M. J. Neurol. (2002)
- Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J.M., Wienker, T.F., Sendtner, M., Rudnik-Schöneborn, S., Zerres, K., Hübner, C. Nat. Genet. (2001)
- SMN oligomerization defect correlates with spinal muscular atrophy severity. Lorson, C.L., Strasswimmer, J., Yao, J.M., Baleja, J.D., Hahnen, E., Wirth, B., Le, T., Burghes, A.H., Androphy, E.J. Nat. Genet. (1998)
- Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy. Iwahashi, H., Eguchi, Y., Yasuhara, N., Hanafusa, T., Matsuzawa, Y., Tsujimoto, Y. Nature (1997)
- Symmetrical dimethylarginine methylation is required for the localization of SMN in Cajal bodies and pre-mRNA splicing. Boisvert, F.M., Cote, J., Boulanger, M.C., Cleroux, P., Bachand, F., Autexier, C., Richard, S. J. Cell Biol. (2002)
- In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate. Brichta, L., Holker, I., Haug, K., Klockgether, T., Wirth, B. Ann. Neurol. (2006)
- In vitro restoration of functional SMN protein in human trophoblast cells affected by spinal muscular atrophy by small fragment homologous replacement. Sangiuolo, F., Filareto, A., Spitalieri, P., Scaldaferri, M.L., Mango, R., Bruscia, E., Citro, G., Brunetti, E., De Felici, M., Novelli, G. Hum. Gene Ther. (2005)
- Genetic testing and risk assessment for spinal muscular atrophy (SMA). Ogino, S., Wilson, R.B. Hum. Genet. (2002)
- New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Ogino, S., Wilson, R.B., Gold, B. Eur. J. Hum. Genet. (2004)
- Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Helmken, C., Hofmann, Y., Schoenen, F., Oprea, G., Raschke, H., Rudnik-Schöneborn, S., Zerres, K., Wirth, B. Hum. Genet. (2003)
- Multiplex nested PCR for preimplantation genetic diagnosis of spinal muscular atrophy. Malcov, M., Schwartz, T., Mei-Raz, N., Yosef, D.B., Amit, A., Lessing, J.B., Shomrat, R., Orr-Urtreger, A., Yaron, Y. Fetal. Diagn. Ther. (2004)
- Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families. Savas, S., Eraslan, S., Kantarci, S., Karaman, B., Acarsoz, D., Tükel, T., Cogulu, O., Ozkinay, F., Basaran, S., Aydinli, K., Yuksel-Apak, M., Kirdar, B. Prenat. Diagn. (2002)
- Spinal muscular atrophy: molecular pathophysiology. Gendron, N.H., MacKenzie, A.E. Curr. Opin. Neurol. (1999)
- Survival motor neuron protein modulates neuron-specific apoptosis. Kerr, D.A., Nery, J.P., Traystman, R.J., Chau, B.N., Hardwick, J.M. Proc. Natl. Acad. Sci. U.S.A. (2000)
- The spinal muscular atrophy disease gene product, SMN: A link between snRNP biogenesis and the Cajal (coiled) body. Carvalho, T., Almeida, F., Calapez, A., Lafarga, M., Berciano, M.T., Carmo-Fonseca, M. J. Cell Biol. (1999)
- Specific sequences of the Sm and Sm-like (Lsm) proteins mediate their interaction with the spinal muscular atrophy disease gene product (SMN). Friesen, W.J., Dreyfuss, G. J. Biol. Chem. (2000)
- A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Cuscó, I., López, E., Soler-Botija, C., Jesús Barceló, M., Baiget, M., Tizzano, E.F. Hum. Mutat. (2003)
- Study of survival of motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) gene deletions in SMA patients. Kesari, A., Misra, U.K., Kalita, J., Mishra, V.N., Pradhan, S., Patil, S.J., Phadke, S.R., Mittal, B. J. Neurol. (2005)
- C117T variant in the SMN1 gene found in the Japanese population. Sadewa, A.H., Harada, Y., Sasongko, T.H., Matsuo, M., Nishio, H. Pediatrics international : official journal of the Japan Pediatric Society (2007)
- Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Tarnopolsky, M.A., Bourgeois, J.M., Fu, M.H., Kataeva, G., Shah, J., Simon, D.K., Mahoney, D., Johns, D., MacKay, N., Robinson, B.H. Am. J. Med. Genet. A (2004)
- An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA). Helmken, C., Wetter, A., Rudnik-Schöneborn, S., Liehr, T., Zerres, K., Wirth, B. Eur. J. Hum. Genet. (2000)
- Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene. Hung, C.C., Lee, C.N., Chen, C.P., Jong, Y.J., Chen, C.A., Cheng, W.F., Lin, W.L., Su, Y.N. Anal. Chem. (2005)