Gene Review:
ATXN7 - ataxin 7
Homo sapiens
Synonyms:
ADCAII, Ataxin-7, OPCA3, SCA7, Spinocerebellar ataxia type 7 protein
- Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. La Spada, A.R., Fu, Y.H., Sopher, B.L., Libby, R.T., Wang, X., Li, L.Y., Einum, D.D., Huang, J., Possin, D.E., Smith, A.C., Martinez, R.A., Koszdin, K.L., Treuting, P.M., Ware, C.B., Hurley, J.B., Ptácek, L.J., Chen, S. Neuron (2001)
- Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. Lebre, A.S., Jamot, L., Takahashi, J., Spassky, N., Leprince, C., Ravisé, N., Zander, C., Fujigasaki, H., Kussel-Andermann, P., Duyckaerts, C., Camonis, J.H., Brice, A. Hum. Mol. Genet. (2001)
- A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations. Jardim, L.B., Silveira, I., Pereira, M.L., Ferro, A., Alonso, I., do Céu Moreira, M., Mendonça, P., Ferreirinha, F., Sequeiros, J., Giugliani, R. J. Neurol. (2001)
- Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions. Holmberg, M., Duyckaerts, C., Dürr, A., Cancel, G., Gourfinkel-An, I., Damier, P., Faucheux, B., Trottier, Y., Hirsch, E.C., Agid, Y., Brice, A. Hum. Mol. Genet. (1998)
- Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype. Benton, C.S., de Silva, R., Rutledge, S.L., Bohlega, S., Ashizawa, T., Zoghbi, H.Y. Neurology (1998)
- Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA. Koob, M.D., Benzow, K.A., Bird, T.D., Day, J.W., Moseley, M.L., Ranum, L.P. Nat. Genet. (1998)
- Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Helmlinger, D., Yvert, G., Picaud, S., Merienne, K., Sahel, J., Mandel, J.L., Devys, D. Hum. Mol. Genet. (2002)
- Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. David, G., Abbas, N., Stevanin, G., Dürr, A., Yvert, G., Cancel, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., Drabkin, H., Gemmill, R., Giunti, P., Benomar, A., Wood, N., Ruberg, M., Agid, Y., Mandel, J.L., Brice, A. Nat. Genet. (1997)
- Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Helmlinger, D., Tora, L., Devys, D. Trends Genet. (2006)
- PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins. Janer, A., Martin, E., Muriel, M.P., Latouche, M., Fujigasaki, H., Ruberg, M., Brice, A., Trottier, Y., Sittler, A. J. Cell Biol. (2006)
- Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Scheel, H., Tomiuk, S., Hofmann, K. Hum. Mol. Genet. (2003)
- Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. Hsieh, M., Lin, S.J., Chen, J.F., Lin, H.M., Hsiao, K.M., Li, S.Y., Li, C., Tsai, C.J. J. Neurol. (2000)
- Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype. Aleman, T.S., Cideciyan, A.V., Volpe, N.J., Stevanin, G., Brice, A., Jacobson, S.G. Exp. Eye Res. (2002)
- An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Lindblad, K., Savontaus, M.L., Stevanin, G., Holmberg, M., Digre, K., Zander, C., Ehrsson, H., David, G., Benomar, A., Nikoskelainen, E., Trottier, Y., Holmgren, G., Ptacek, L.J., Anttinen, A., Brice, A., Schalling, M. Genome Res. (1996)
- Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Kaytor, M.D., Duvick, L.A., Skinner, P.J., Koob, M.D., Ranum, L.P., Orr, H.T. Hum. Mol. Genet. (1999)
- A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Ström, A.L., Forsgren, L., Holmberg, M. Neurobiol. Dis. (2005)
- Childhood-onset ataxia: testing for large CAG-repeats in SCA2 and SCA7. Mao, R., Aylsworth, A.S., Potter, N., Wilson, W.G., Breningstall, G., Wick, M.J., Babovic-Vuksanovic, D., Nance, M., Patterson, M.C., Gomez, C.M., Snow, K. Am. J. Med. Genet. (2002)
- Qs in the nucleus. Orr, H.T. Neuron (2001)
- Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. Matilla, A., Gorbea, C., Einum, D.D., Townsend, J., Michalik, A., van Broeckhoven, C., Jensen, C.C., Murphy, K.J., Ptácek, L.J., Fu, Y.H. Hum. Mol. Genet. (2001)
- Analysis of CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7 and DRPLA loci in spinocerebellar ataxia patients and distribution of CAG repeats at the SCA1, SCA2 and SCA6 loci in nine ethnic populations of eastern India. Basu, P., Chattopadhyay, B., Gangopadhaya, P.K., Mukherjee, S.C., Sinha, K.K., Das, S.K., Roychoudhury, S., Majumder, P.P., Bhattacharyya, N.P. Hum. Genet. (2000)
- The pathogenesis of spinocerebellar ataxia. Koeppen, A.H. Cerebellum (2005)
- Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Del-Favero, J., Krols, L., Michalik, A., Theuns, J., Löfgren, A., Goossens, D., Wehnert, A., Van den Bossche, D., Van Zand, K., Backhovens, H., van Regenmorter, N., Martin, J.J., Van Broeckhoven, C. Hum. Mol. Genet. (1998)