ATXN3

[Molecular Therapy-Nucleic Acids] The authors provided proof of principle that allele-specific lowering of polyQ-expanded ataxin-3 by selective antisense oligonucleotides was feasible and long lasting with sparing of wildtype ataxin-3 expression in a human cell culture model that was genetically identical to spinocerebellar ataxia type 3 (SCA3) patients.

[Translational Psychiatry] Spinocerebellar ataxia type 3 (SCA3)-iPSCs could be corrected by the replacement of the abnormal CAG expansions with normal repeats using CRISPR/Cas9-mediated homologous recombination strategy. Corrected SCA3-iPSCs retained pluripotent and normal karyotype, which could be differentiated into a neural stem cell and neuronal cells.