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; Marten Kyllerman; Eugen Boltshauser; Gerhard Hammersen; Michèl Willemsen; Lina Basel-Vanagaite; Ingeborg Krägeloh-Mann; Linda S. de Vries; Laszlo 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; W. Hohne; I. Krageloh-Mann

doi:https://doi.org/10.1038/ng.204

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 BrockmannMarten Kyllerman, Eugen Boltshauser, Gerhard Hammersen, Michèl Willemsen, Lina Basel-Vanagaite, Ingeborg Krägeloh-Mann, Linda S. de Vries, Laszlo 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, W. Hohne, I. Krageloh-Mann

Research output: Contribution to journal › Article › Academic › peer-review

201 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 language	English
Pages (from-to)	1113-1118
Journal	Nature Genetics
Volume	40
Issue number	9
DOIs	https://doi.org/10.1038/ng.204
Publication status	Published - 2008

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https://doi.org/10.1038/ng.204

Cite this

Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B. T., Nürnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., te Beek, E. T., Aronica, E., van der Knaap, M. S., Höhne, W., Toliat, M. R., Crow, Y. J., Steinlin, M., Voit, T., Roelens, F., Brussel, W., ... Krageloh-Mann, I. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9), 1113-1118. https://doi.org/10.1038/ng.204

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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 Laszlo 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 and W. Hohne and I. Krageloh-Mann",

year = "2008",

doi = "https://doi.org/10.1038/ng.204",

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volume = "40",

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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, Hohne, W & Krageloh-Mann, I 2008, 'tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia', Nature Genetics, vol. 40, no. 9, pp. 1113-1118. https://doi.org/10.1038/ng.204

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, Laszlo

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

AU - Hohne, W.

AU - Krageloh-Mann, I.

PY - 2008

Y1 - 2008

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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

U2 - https://doi.org/10.1038/ng.204

DO - https://doi.org/10.1038/ng.204

M3 - Article

C2 - 18711368

SN - 1061-4036

VL - 40

SP - 1113

EP - 1118

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -