Gene Review:
ATXN10 - ataxin 10
Homo sapiens
Synonyms:
Ataxin-10, Brain protein E46 homolog, E46L, FLJ37990, HUMEEP, ...
- Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Zu, L., Figueroa, K.P., Grewal, R., Pulst, S.M. Am. J. Hum. Genet. (1999)
- Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Rasmussen, A., Matsuura, T., Ruano, L., Yescas, P., Ochoa, A., Ashizawa, T., Alonso, E. Ann. Neurol. (2001)
- Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. März, P., Probst, A., Lang, S., Schwager, M., Rose-John, S., Otten, U., Ozbek, S. J. Biol. Chem. (2004)
- Ataxin-10 interacts with O-GlcNAc transferase OGT in pancreatic beta cells. Andrali, S.S., März, P., Ozcan, S. Biochem. Biophys. Res. Commun. (2005)
- Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Matsuura, T., Yamagata, T., Burgess, D.L., Rasmussen, A., Grewal, R.P., Watase, K., Khajavi, M., McCall, A.E., Davis, C.F., Zu, L., Achari, M., Pulst, S.M., Alonso, E., Noebels, J.L., Nelson, D.L., Zoghbi, H.Y., Ashizawa, T. Nat. Genet. (2000)
- Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Matsuura, T., Fang, P., Lin, X., Khajavi, M., Tsuji, K., Rasmussen, A., Grewal, R.P., Achari, M., Alonso, M.E., Pulst, S.M., Zoghbi, H.Y., Nelson, D.L., Roa, B.B., Ashizawa, T. Am. J. Hum. Genet. (2004)
- Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Worth, P.F., Giunti, P., Gardner-Thorpe, C., Dixon, P.H., Davis, M.B., Wood, N.W. Am. J. Hum. Genet. (1999)
- The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10. Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G.C., Gao, R., Xu, W., Sarkar, P.S., Lin, X., Ashizawa, T. Neurology (2006)
- Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. Waragai, M., Nagamitsu, S., Xu, W., Li, Y.J., Lin, X., Ashizawa, T. J. Neurosci. Res. (2006)
- Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Burgess, D.L., Matsuura, T., Ashizawa, T., Noebels, J.L. Epilepsia (2000)
- Polymerase chain reaction amplification of expanded ATTCT repeat in spinocerebellar ataxia type 10. Matsuura, T., Ashizawa, T. Ann. Neurol. (2002)
- Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. Cagnoli, C., Michielotto, C., Matsuura, T., Ashizawa, T., Margolis, R.L., Holmes, S.E., Gellera, C., Migone, N., Brusco, A. The Journal of molecular diagnostics : JMD. (2004)
- Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Teive, H.A., Roa, B.B., Raskin, S., Fang, P., Arruda, W.O., Neto, Y.C., Gao, R., Werneck, L.C., Ashizawa, T. Neurology (2004)