tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

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

NATURE GENETICS, cilt.40, sa.9, ss.1113-1118, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 9
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1038/ng.204
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1113-1118
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.