Polyglutamine expansion

Zhuchenko, O., Bailey, J., Bonnen, R et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alA-voltage-dependent calcium channel. Nat Genet. 15 62-69,1997. 

Matsuyama Z, Wakamori M, Mori Y, Kawakami H, Nakamura S, Imoto K (1999) Direct alteration of the P/Q-type Ca2+ channel property by polyglutamine expansion in spinocerebellar ataxia 6. 

Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Chamet P, Gomez CM (2000) The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. J Neurosci 20 6394—6403. 

Keywords calcium signaling, huntingtin, neurodegeneration, polyglutamine expansion, inositol... 

Friedman MJ et al (2008) Polyglutamine expansion reduces the association of TATA-binding protein with DNA and induces DNA binding-independent neurotoxicity. J Biol Chem 283(13) 8283-8290... 

Schaffar G et al (2004) Cellular toxicity of polyglutamine expansion proteins mechanism of transcription factor deactivation. Mol Cell 15(1) 95—105... 

Schaffar G, Breuer P, Boteva R, Behrends C, Tzvetkov N, Strippel N, Sakahira H, Siegers K, Hayer-Hartl M, Hartl FU (2004) Cellular toxicity of polyglutamine expansion proteins mechanism of transcription factor deactivation. Mol Cell 15 95-105... 

Kegel KB, Sapp E, Alexander J, Valencia A, Reeves P, Li X, Masso N, Sobin L, Aronin N, DiFiglia M (2009) Polyglutamine expansion in huntingtin alters its interaction with phospholipids. J... 

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