U12 snRNA destabilization linked to cerebellar ataxia

23.3.2021
Our new paper in NAR describe the molecular mechanism underlying the cerebellar ataxia disease by a U12 snRNA mutation. In his paper Antto shows that the U12 snRNA point mutation destabilize the 3'- end stem structure which leads to excessive processing of the snRNA first by TOE1 nuclease followed by nuclear exosome.

Norppa AJ & Frilander MJ (2021). The integrity of the U12 snRNA 3′ stem–loop is necessary for its overall stability.  Nucleic Acids Research, 49: 2835–2847.