GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7
ataxin-7
164500
Janer A, Martin E, Muriel M, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A (2006). «PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins». J Cell Biol174 (1): 65–76. PMID 16818720.
Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L (2006). «Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes». Biochem Soc Symp (73): 155–63. PMID 16626296.
Wang H, Yeh T, Chou A, Kuo Y, Luo L, He C, Huang P, Li A (2006). «Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)». Cell Signal18 (4): 541–52. PMID 15964171.
Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F (2004). «Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats». Ann Neurol56 (3): 448–52. PMID 15349877.
Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz J, Mandel J, Tora L, Devys D (2004). «Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes». Hum Mol Genet13 (12): 1257–65. PMID 15115762.