Gene Review:
ALS2 - amyotrophic lateral sclerosis 2 (juvenile)
Homo sapiens
Synonyms:
ALS2CR6, ALSJ, Alsin, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein, Amyotrophic lateral sclerosis 2 protein, ...
- A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano, S., Hand, C.K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R.S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D.A., Kwiatkowski, T., Hosler, B.A., Sagie, T., Skaug, J., Nasir, J., Brown, R.H., Scherer, S.W., Rouleau, G.A., Hayden, M.R., Ikeda, J.E. Nat. Genet. (2001)
- Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F.M., di Capua, M., Bertini, E., Boespflug-Tanguy, O. Am. J. Hum. Genet. (2002)
- Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking. Kunita, R., Otomo, A., Mizumura, H., Suzuki, K., Showguchi-Miyata, J., Yanagisawa, Y., Hadano, S., Ikeda, J.E. J. Biol. Chem. (2004)
- The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Devon, R.S., Helm, J.R., Rouleau, G.A., Leitner, Y., Lerman-Sagie, T., Lev, D., Hayden, M.R. Clin. Genet. (2003)
- Progressive spinal axonal degeneration and slowness in ALS2-deficient mice. Yamanaka, K., Miller, T.M., McAlonis-Downes, M., Chun, S.J., Cleveland, D.W. Ann. Neurol. (2006)
- The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Yang, Y., Hentati, A., Deng, H.X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.Y., Ouahchi, K., Yan, J., Azim, A.C., Cole, N., Gascon, G., Yagmour, A., Ben-Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T. Nat. Genet. (2001)
- Genetic inroads in familial ALS. Shaw, P.J. Nat. Genet. (2001)
- Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. Nagano, I., Murakami, T., Shiote, M., Manabe, Y., Hadano, S., Yanagisawa, Y., Ikeda, J.E., Abe, K. Neurol. Res. (2003)
- The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Panzeri, C., De Palma, C., Martinuzzi, A., Daga, A., De Polo, G., Bresolin, N., Miller, C.C., Tudor, E.L., Clementi, E., Bassi, M.T. Brain (2006)
- A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34. Hadano, S., Nichol, K., Brinkman, R.R., Nasir, J., Martindale, D., Koop, B.F., Nicholson, D.W., Scherer, S.W., Ikeda, J.E., Hayden, M.R. Genomics (1999)
- Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families. Lesca, G., Eymard-Pierre, E., Santorelli, F.M., Cusmai, R., Di Capua, M., Valente, E.M., Attia-Sobol, J., Plauchu, H., Leuzzi, V., Ponzone, A., Boespflug-Tanguy, O., Bertini, E. Neurology (2003)
- ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics. Otomo, A., Hadano, S., Okada, T., Mizumura, H., Kunita, R., Nishijima, H., Showguchi-Miyata, J., Yanagisawa, Y., Kohiki, E., Suga, E., Yasuda, M., Osuga, H., Nishimoto, T., Narumiya, S., Ikeda, J.E. Hum. Mol. Genet. (2003)
- Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease. Yamanaka, K., Vande Velde, C., Eymard-Pierre, E., Bertini, E., Boespflug-Tanguy, O., Cleveland, D.W. Proc. Natl. Acad. Sci. U.S.A. (2003)
- ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth. Tudor, E.L., Perkinton, M.S., Schmidt, A., Ackerley, S., Brownlees, J., Jacobsen, N.J., Byers, H.L., Ward, M., Hall, A., Leigh, P.N., Shaw, C.E., McLoughlin, D.M., Miller, C.C. J. Biol. Chem. (2005)
- Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis. Eymard-Pierre, E., Yamanaka, K., Haeussler, M., Kress, W., Gauthier-Barichard, F., Combes, P., Cleveland, D.W., Boespflug-Tanguy, O. Ann. Neurol. (2006)
- Analysis of the Candida albicans Als2p and Als4p adhesins suggests the potential for compensatory function within the Als family. Zhao, X., Oh, S.H., Yeater, K.M., Hoyer, L.L. Microbiology (Reading, Engl.) (2005)
- Gene transcription studies of Candida albicans following infection of HEp2 epithelial cells. Sandovsky-Losica, H., Chauhan, N., Calderone, R., Segal, E. Med. Mycol. (2006)
- Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Hentati, A., Bejaoui, K., Pericak-Vance, M.A., Hentati, F., Speer, M.C., Hung, W.Y., Figlewicz, D.A., Haines, J., Rimmler, J., Ben Hamida, C. Nat. Genet. (1994)
- Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis. Hand, C.K., Devon, R.S., Gros-Louis, F., Rochefort, D., Khoris, J., Meininger, V., Bouchard, J.P., Camu, W., Hayden, M.R., Rouleau, G.A. Arch. Neurol. (2003)
- Purification and functional analyses of ALS2 and its homologue. Hadano, S., Ikeda, J.E. Meth. Enzymol. (2005)
- Biochemical characterization of Alsin, a Rab5 and Rac1 guanine nucleotide exchange factor. Topp, J.D., Carney, D.S., Horazdovsky, B.F. Meth. Enzymol. (2005)