tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
| Autor: | Raoul C.M. Hennekam, Marian A. J. Weterman, Gudrun Nürnberg, Eleonora Aronica, Francesco Muntoni, Yasmin Namavar, Bwee Tien Poll-The, Frank Baas, Peter G. Barth, Birgit Budde, Mohammad R. Toliat, Ingeborg Krägeloh-Mann, Bernd Wollnik, Mårten Kyllerman, Yanick J. Crow, Wolfgang Höhne, Fred van Ruissen, Knut Brockmann, Thomas Voit, Erik T. Te Beek, Linda S. de Vries, Michèl A.A.P. Willemsen, Peter Nürnberg, Maja Steinlin, Roberta Battini, Kees Fluiter, Lina Basel-Vanagaite, Eugen Boltshauser, Wim Brussel, Eugenio Grillo, Filip Roelens, Gerhard Hammersen, Frits A. Beemer, Christian Becker, Marjo S. van der Knaap, Loes M E Stoets, László Sztriha, Colin D. Ferrie |
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| Přispěvatelé: | Genome Analysis, Paediatric Neurology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ANS - Amsterdam Neuroscience, Neurology, CCA -Cancer Center Amsterdam, Human Genetics, APH - Amsterdam Public Health, 05 Neurology and psychiatry, Pathology, Paediatric Genetics, Neuroscience Campus Amsterdam 2008, Pediatric surgery, University of Zurich, Baas, F |
| Rok vydání: | 2008 |
| Předmět: |
Models
Molecular Microcephaly Cerebellum Pontocerebellar hypoplasia 610 Medicine & health Biology medicine.disease_cause Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Atrophy Cognitive neurosciences [UMCN 3.2] 1311 Genetics SDG 3 - Good Health and Well-being Pons Endoribonucleases Genetics medicine Humans 030304 developmental biology 0303 health sciences Mutation Brain Chromosome Mapping Syndrome medicine.disease Neuromuscular development and genetic disorders [UMCN 3.1] Hypoplasia medicine.anatomical_structure 10036 Medical Clinic RNA splicing Endonuclease complex 030217 neurology & neurosurgery Chromosomes Human Pair 17 |
| Zdroj: | Nature genetics, 40(9), 1113-1118. Nature Publishing Group Nature Genetics, 40(9), 1113-1118. Nature Publishing Group Budde, B S, Namavar, Y, Barth, P G, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, M A J, Fluiter, K, Beek, E T T, Aronica, E, van der Knaap, M S, Hohne, W, Toliat, M R, Crow, Y J, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krageloh-Mann, I, de Vries, L S, Sztriha, L, Muntoni, F, Ferrie, C D, Battini, R, Hennekam, R C M, Grillo, E, Beemer, F A, Stoets, L M E, Wollnik, B, Nurnberg, P & Baas, F 2008, ' tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia ', Nature Genetics, vol. 40, no. 9, pp. 1113-1118 . https://doi.org/10.1038/ng.204 Nature Genetics, 40, 1113-8 Nature Genetics, 40, 9, pp. 1113-8 |
| ISSN: | 1061-4036 |
| DOI: | 10.5167/uzh-12413 |
| Popis: | Contains fulltext : 69211.pdf (Publisher’s version ) (Closed access) 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. |
| Databáze: | OpenAIRE |
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