tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Birgit S. Budde, Yasmin Namavar, Peter G. Barth, Bwee Tien Poll-The, Gudrun Nürnberg, Christian Becker, Fred Van Ruissen, Marian A J Weterman, Kees Fluiter, Erik T. Te Beek, Eleonora Aronica, Marjo S. Van Der Knaap, Wolfgang Höhne, Mohammad Reza Toliat, Yanick J. Crow, Maja Steinlin, Thomas Voit, Filip Roelens, Wim Brussel, Knut Brockmann & 18 others Marten Kyllerman, Eugen Boltshauser, Gerhard Hammersen, Michèl Willemsen, Lina Basel-Vanagaite, Ingeborg Krägeloh-Mann, Linda S. De Vries, L. Sztriha, Francesco Muntoni, Colin D. Ferrie, Roberta Battini, Raoul C M Hennekam, Eugenio Grillo, Frits A. Beemer, Loes M E Stoets, Bernd Wollnik, Peter Nürnberg, Frank Baas

Research output: Contribution to journalArticle

132 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1113-1118
Number of pages6
JournalNature Genetics
Volume40
Issue number9
DOIs
Publication statusPublished - Sep 2008

Fingerprint

Atrophy
Microcephaly
Mutation
Pons
Nervous System Diseases
Cerebellum
RNA
splicing endonuclease
Pontocerebellar Hypoplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nürnberg, G., Becker, C., ... Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9), 1113-1118. https://doi.org/10.1038/ng.204

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. / 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.; Steinlin, Maja; Voit, Thomas; Roelens, Filip; Brussel, Wim; Brockmann, Knut; Kyllerman, Marten; Boltshauser, Eugen; Hammersen, Gerhard; Willemsen, Michèl; Basel-Vanagaite, Lina; Krägeloh-Mann, Ingeborg; De Vries, Linda S.; Sztriha, L.; Muntoni, Francesco; Ferrie, Colin D.; Battini, Roberta; Hennekam, Raoul C M; Grillo, Eugenio; Beemer, Frits A.; Stoets, Loes M E; Wollnik, Bernd; Nürnberg, Peter; Baas, Frank.

In: Nature Genetics, Vol. 40, No. 9, 09.2008, p. 1113-1118.

Research output: Contribution to journalArticle

Budde, BS, Namavar, Y, Barth, PG, Poll-The, BT, Nürnberg, G, Becker, C, Van Ruissen, F, Weterman, MAJ, Fluiter, K, Te Beek, ET, Aronica, E, Van Der Knaap, MS, Höhne, W, Toliat, MR, Crow, YJ, Steinlin, M, Voit, T, Roelens, F, Brussel, W, Brockmann, K, Kyllerman, M, Boltshauser, E, Hammersen, G, Willemsen, M, Basel-Vanagaite, L, Krägeloh-Mann, I, De Vries, LS, Sztriha, L, Muntoni, F, Ferrie, CD, Battini, R, Hennekam, RCM, Grillo, E, Beemer, FA, Stoets, LME, Wollnik, B, Nürnberg, 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
Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C et al. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics. 2008 Sep;40(9):1113-1118. https://doi.org/10.1038/ng.204
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. ; Steinlin, Maja ; Voit, Thomas ; Roelens, Filip ; Brussel, Wim ; Brockmann, Knut ; Kyllerman, Marten ; Boltshauser, Eugen ; Hammersen, Gerhard ; Willemsen, Michèl ; Basel-Vanagaite, Lina ; Krägeloh-Mann, Ingeborg ; De Vries, Linda S. ; Sztriha, L. ; Muntoni, Francesco ; Ferrie, Colin D. ; Battini, Roberta ; Hennekam, Raoul C M ; Grillo, Eugenio ; Beemer, Frits A. ; Stoets, Loes M E ; Wollnik, Bernd ; Nürnberg, Peter ; Baas, Frank. / tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. In: Nature Genetics. 2008 ; Vol. 40, No. 9. pp. 1113-1118.
@article{2a1d1f33bdf64dc488cf96cbde86763a,
title = "tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia",
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.",
author = "Budde, {Birgit S.} and Yasmin Namavar and Barth, {Peter G.} and Poll-The, {Bwee Tien} and Gudrun N{\"u}rnberg and Christian Becker and {Van Ruissen}, Fred and Weterman, {Marian A J} and Kees Fluiter and {Te Beek}, {Erik T.} and Eleonora Aronica and {Van Der Knaap}, {Marjo S.} and Wolfgang H{\"o}hne and Toliat, {Mohammad Reza} and Crow, {Yanick J.} and Maja Steinlin and Thomas Voit and Filip Roelens and Wim Brussel and Knut Brockmann and Marten Kyllerman and Eugen Boltshauser and Gerhard Hammersen and Mich{\`e}l Willemsen and Lina Basel-Vanagaite and Ingeborg Kr{\"a}geloh-Mann and {De Vries}, {Linda S.} and L. Sztriha and Francesco Muntoni and Ferrie, {Colin D.} and Roberta Battini and Hennekam, {Raoul C M} and Eugenio Grillo and Beemer, {Frits A.} and Stoets, {Loes M E} and Bernd Wollnik and Peter N{\"u}rnberg and Frank Baas",
year = "2008",
month = "9",
doi = "10.1038/ng.204",
language = "English",
volume = "40",
pages = "1113--1118",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "9",

}

TY - JOUR

T1 - tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

AU - Budde, Birgit S.

AU - Namavar, Yasmin

AU - Barth, Peter G.

AU - Poll-The, Bwee Tien

AU - Nürnberg, Gudrun

AU - Becker, Christian

AU - Van Ruissen, Fred

AU - Weterman, Marian A J

AU - Fluiter, Kees

AU - Te Beek, Erik T.

AU - Aronica, Eleonora

AU - Van Der Knaap, Marjo S.

AU - Höhne, Wolfgang

AU - Toliat, Mohammad Reza

AU - Crow, Yanick J.

AU - Steinlin, Maja

AU - Voit, Thomas

AU - Roelens, Filip

AU - Brussel, Wim

AU - Brockmann, Knut

AU - Kyllerman, Marten

AU - Boltshauser, Eugen

AU - Hammersen, Gerhard

AU - Willemsen, Michèl

AU - Basel-Vanagaite, Lina

AU - Krägeloh-Mann, Ingeborg

AU - De Vries, Linda S.

AU - Sztriha, L.

AU - Muntoni, Francesco

AU - Ferrie, Colin D.

AU - Battini, Roberta

AU - Hennekam, Raoul C M

AU - Grillo, Eugenio

AU - Beemer, Frits A.

AU - Stoets, Loes M E

AU - Wollnik, Bernd

AU - Nürnberg, Peter

AU - Baas, Frank

PY - 2008/9

Y1 - 2008/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=50449096432&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=50449096432&partnerID=8YFLogxK

U2 - 10.1038/ng.204

DO - 10.1038/ng.204

M3 - Article

VL - 40

SP - 1113

EP - 1118

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 9

ER -