tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit S. Budde, 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 Steinlin, Thomas Voit, Filip Roelens, Wim Brussel, Knut BrockmannMarten 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

Research output: Contribution to journalArticle

140 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1113-1118
Number of pages6
JournalNature genetics
Volume40
Issue number9
DOIs
Publication statusPublished - Sep 1 2008

ASJC Scopus subject areas

  • Genetics

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  • Cite this

    Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nürnberg, G., Becker, C., Van Ruissen, F., Weterman, M. A. J., Fluiter, K., Te Beek, E. T., Aronica, E., Van Der Knaap, M. S., Höhne, W., Toliat, M. R., Crow, Y. J., Steinlin, M., Voit, T., Roelens, F., Brussel, W., ... Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature genetics, 40(9), 1113-1118. https://doi.org/10.1038/ng.204