2. Academic Validation
  3. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

  • Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.
Birgit S Budde 1,  Yasmin Namavar,  Peter G Barth,  Bwee Tien Poll-The,  Gudrun Nürnberg,  Christian Becker,  Fred van Ruissen,  Marian A J Weterman,  Kees Fluiter,  Erik T te Beek,  Eleonora Aronica,  Marjo S van der Knaap,  Wolfgang Höhne,  Mohammad Reza Toliat,  Yanick J Crow,  Maja Steinling,  Thomas Voit,  Filip Roelenso,  Wim Brussel,  Knut Brockmann,  Marten Kyllerman,  Eugen Boltshauser,  Gerhard Hammersen,  Michèl Willemsen,  Lina Basel-Vanagaite,  Ingeborg Krägeloh-Mann,  Linda S de Vries,  Laszlo Sztriha,  Francesco Muntoni,  Colin D Ferrie,  Roberta Battini,  Raoul C M Hennekam,  Eugenio Grillo,  Frits A Beemer,  Loes M E Stoets,  Bernd Wollnik,  Peter Nürnberg,  Frank Baas
Affiliations

Affiliation

  • 1 Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany.
PMID: 18711368 DOI: 10.1038/ng.204
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.

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