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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

dc.contributor.authorFluiter, Kees
dc.contributor.authorHammersen, Gerhard
dc.contributor.authorWillemsen, Michel
dc.contributor.authorPoll-The, Bwee Tien
dc.contributor.authorNuernberg, Gudrun
dc.contributor.authorBecker, Christian
dc.contributor.authorvan Ruissen, Fred
dc.contributor.authorWeterman, Marian A. J.
dc.contributor.authorBoltshauser, Eugen
dc.contributor.authorBeek, Erik T. te
dc.contributor.authorAronica, Eleonora
dc.contributor.authorvan der Knaap, Marjo S.
dc.contributor.authorHoehne, Wolfgang
dc.contributor.authorToliat, Mohammad Reza
dc.contributor.authorCrow, Yanick J.
dc.contributor.authorSteinlin, Maja
dc.contributor.authorVoit, Thomas
dc.contributor.authorRoelens, Filip
dc.contributor.authorBrussel, Wim
dc.contributor.authorBrockmann, Knut
dc.contributor.authorKyllerman, Marten
dc.contributor.authorBasel-Vanagaite, Lina
dc.contributor.authorKraegeloh-Mann, Ingeborg
dc.contributor.authorde Vries, Linda S.
dc.contributor.authorSztriha, Laszlo
dc.contributor.authorMuntoni, Francesco
dc.contributor.authorFerrie, Colin D.
dc.contributor.authorBattini, Roberta
dc.contributor.authorHennekam, Raoul C. M.
dc.contributor.authorGrillo, Eugenio
dc.contributor.authorBeemer, Frits A.
dc.contributor.authorStoets, Loes M. E.
dc.contributor.authorWollnik, Bernd
dc.contributor.authorNuernberg, Peter
dc.contributor.authorBaas, Frank
dc.contributor.authorBudde, Birgit S.
dc.contributor.authorNamavar, Yasmin
dc.contributor.authorBarth, Peter G.
dc.date.accessioned2021-03-03T19:16:45Z
dc.date.available2021-03-03T19:16:45Z
dc.date.issued2008
dc.identifier.citationBudde B. S. , Namavar Y., Barth P. G. , Poll-The B. T. , Nuernberg G., Becker C., van Ruissen F., Weterman M. A. J. , Fluiter K., Beek E. T. t. , et al., "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia", NATURE GENETICS, cilt.40, sa.9, ss.1113-1118, 2008
dc.identifier.issn1061-4036
dc.identifier.othervv_1032021
dc.identifier.otherav_53ab9bb7-fe59-4ef1-97de-759e74d2ed55
dc.identifier.urihttp://hdl.handle.net/20.500.12627/59299
dc.identifier.urihttps://doi.org/10.1038/ng.204
dc.description.abstractPontocerebellar 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.
dc.language.isoeng
dc.subjectTıp
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.titletRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
dc.typeMakale
dc.relation.journalNATURE GENETICS
dc.contributor.departmentUniversity of Cologne , ,
dc.identifier.volume40
dc.identifier.issue9
dc.identifier.startpage1113
dc.identifier.endpage1118
dc.contributor.firstauthorID189607


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