tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia


Budde B. S., Namavar Y., Barth P. G., Poll-The B. T., Nuernberg G., Becker C., ...More

NATURE GENETICS, vol.40, no.9, pp.1113-1118, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 40 Issue: 9
  • Publication Date: 2008
  • Doi Number: 10.1038/ng.204
  • Journal Name: NATURE GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1113-1118
  • Istanbul University Affiliated: No

Abstract

Pontocerebellar hypoplasias (PCH) represent a group of neurodegenerative autosomal recessive disorders with prenatal onset, atrophy or hypoplasia of the cerebellum, hypoplasia of the ventral pons, microcephaly, variable neocortical atrophy and severe mental and motor impairments. In two subtypes, PCH2 and PCH4, we identified mutations in three of the four different subunits of the tRNA-splicing endonuclease complex. Our findings point to RNA processing as a new basic cellular impairment in neurological disorders.