Keywords: Spinocerebellar ataxia type 7; SCA7; Polyglutamine disorders
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Quantification of Ataxin-3 and Ataxin-7 aggregates formed in vivo in Drosophila reveals a threshold of aggregated polyglutamine proteins associated with cellular toxicity
Keywords: Polyglutamine disease; Protein aggregates; SCA3; SCA7; Drosophila melanogaster;
Age-, tissue- and length-dependent bidirectional somatic CAGâ¢CTG repeat instability in an allelic series of R6/2 Huntington disease mice
Keywords: HD; Huntington disease; DM; myotonic dystrophy; DM1; myotonic dystrophy type 1; PCR; polymerase chain reaction; YAC; yeast artificial chromosome; BAC; bacterial artificial chromosome; SP-PCR; small pool-PCR; SCA1; spinocerebellar ataxia type 1; SCA7; spin
Olfactory performance in spinocerebellar ataxia type 7 patients
Keywords: Spinocerebellar ataxia; SCA7; Smell; Olfactory impairment;
Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7
Keywords: Atx7; ataxin-7; polyQ; polyglutamine; PRR; proline-rich region; R85FL; full-length R85; SCA7; spinocerebellar ataxia 7; SH3; Src homology 3; Ataxin-7; Proline-rich region; R85FL/ponsin; SH3 domain; Polyglutamine; Inclusion body;
H1152 promotes the degradation of polyglutamine-expanded ataxin-3 or ataxin-7 independently of its ROCK-inhibiting effect and ameliorates mutant ataxin-3-induced neurodegeneration in the SCA3 transgenic mouse
Keywords: Polyglutamine-expanded ataxin-3; Polyglutamine-expanded ataxin-7; H1152; Rho-kinase inhibitor; SCA3 transgenic mice; Pontine nuclei; SCA3; Spinocerebellar ataxia type 3; ROCK; Rho-kinase; SCA7; Spinocerebellar ataxia type 7;
Gray and white matter alterations in spinocerebellar ataxia type 7: An in vivo DTI and VBM study
Keywords: Spinocerebellar ataxia; SCA7; Voxel based morphometry; Diffusion tensor imaging; Tract-based spatial statistics; CAG;
Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia
Keywords: Spinocerebellar ataxia; Craniocervical dystonia; SCA7; Gene mutation
Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity
Keywords: SCA7; Polyglutamine disease; Polyalanine; Trinucleotide repeat; Aggregation