U12 snRNA destabilization linked to cerebellar ataxia
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.