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