| 1 | SCA35, TGM6 |
| Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. | |
| Li M, Pang SY, Song Y, Kung MH, Ho SL, Sham PC. | |
| Clin Genet 83(3):269-73. doi: 10.1111/j.1399-0004.2012.01895.x. Epub 2012 May 29. 2013 | |
| 2 | SCA35, TGM6 |
| Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis. | |
| Guan WJ, Wang JL, Liu YT, Ma YT, Zhou Y, Jiang H, Shen L, Guo JF, Xia K, Li JD, Tang BS. | |
| Biochem Biophys Res Commun 430(2):780-6. doi: 10.1016/j.bbrc.2012.11.069. Epub 2012 Dec 1. 2013 | |
| 3 | SCA35, TGM6 |
| TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. | |
| Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS. | |
| Brain 133(Pt 12):3510-8. doi: 10.1093/brain/awq323. Epub 2010 Nov 23. 2010 | |