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| Title: | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. |
| Author(s): | Budde, B.S.
Namavar, Y.
Barth, P.G.
Poll-The, B.T.
Nurnberg, G.
Becker, C. (329497790)
Ruissen, F. van
Weterman, M.A.J.
Fluiter, K.
Beek, E.T. te
Aronica, E.
Knaap, M.S. van der
Hohne, W.
Toliat, M.R.
Crow, Y.J.
Steinling, M.
Voit, T.
Roelenso, F.
Brussel, W.
Brockmann, K.
Kyllerman, M.
Boltshauser, E.
Hammersen, G.
Willemsen, M.A.A.P. (23476452X)
Basel-Vanagaite, L.
Krageloh-Mann, I.
Vries, LS de
Sztriha, L.
Muntoni, F.
Ferrie, C.D.
Battini, R.
Hennekam, R.C.
Grillo, E.
Beemer, F.A.
Stoets, L.M.
Wollnik, B.
Nurnberg, P.
Baas, F. |
| Publication year: | 2008 |
| Document type: | Article / Letter to editor |
| Journal: | Nature Genetics |
| ISSN: | 1061-4036 |
| Volume: | vol. 40 |
| Issue: | iss. 9 |
| Start page: | p. 1113 |
| End page: | p. 1118 |
| 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. |
| Subject: | UMCN 3.1: Neuromuscular development and genetic disorders
UMCN 3.2: Cognitive neurosciences |
| Organization: | Neurology
UMCN Extern
Dermatology
Human Genetics
Paediatrics |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/69211
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