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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Budde, BS; Namavar, Y; Barth, PG; Poll-The, BT; Nurnberg, G; Becker, C; van Ruissen, F; ... Baas, F; + view all (2008) tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. NAT GENET , 40 (9) 1113 - 1118. 10.1038/ng.204.

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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.

Type: Article
Title: tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
DOI: 10.1038/ng.204
Keywords: LINKAGE ANALYSIS, OLIVOPONTOCEREBELLAR HYPOPLASIA, FETAL-ONSET, PEDIGREES, SPECTRUM, DISEASE, TYPE-2, TOOL, FORM
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/168891
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