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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 2008
Birgit S Budde, and
Yasmin Namavar, and
Peter G Barth, and
Bwee Tien Poll-The, and
Gudrun Nürnberg, and
Christian Becker, and
Fred van Ruissen, and
Marian A J Weterman, and
Kees Fluiter, and
Erik T te Beek, and
Eleonora Aronica, and
Marjo S van der Knaap, and
Wolfgang Höhne, and
Mohammad Reza Toliat, and
Yanick J Crow, and
Maja Steinling, and
Thomas Voit, and
Filip Roelenso, and
Wim Brussel, and
Knut Brockmann, and
Marten Kyllerman, and
Eugen Boltshauser, and
Gerhard Hammersen, and
Michèl Willemsen, and
Lina Basel-Vanagaite, and
Ingeborg Krägeloh-Mann, and
Linda S de Vries, and
Laszlo Sztriha, and
Francesco Muntoni, and
Colin D Ferrie, and
Roberta Battini, and
Raoul C M Hennekam, and
Eugenio Grillo, and
Frits A Beemer, and
Loes M E Stoets, and
Bernd Wollnik, and
Peter Nürnberg, and
Frank Baas
Cologne Center for Genomics and Institute for Genetics, University of Cologne, Cologne, Germany.
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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