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

doi: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

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

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. © 2008 Nature Publishing Group.

Original language	English
Pages (from-to)	1113-1118
Number of pages	5
Journal	Nature Genetics
Volume	40
Issue number	9
DOIs	https://doi.org/10.1038/ng.204
Publication status	Published - Sept 2008

Keywords

metabolism: Brain
abnormalities: Cerebellum
Chromosome Mapping
Chromosomes, Human, Pair 17
genetics: Endoribonucleases
Humans
Models, Molecular
Mutation
Polymorphism, Single Nucleotide
abnormalities: Pons
Syndrome

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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., ... Baas, F. (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9), 1113-1118. https://doi.org/10.1038/ng.204

@article{61b4f8d8965f47bd8e35ef1c91d441d8,

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. {\textcopyright} 2008 Nature Publishing Group.",

keywords = "metabolism: Brain, abnormalities: Cerebellum, Chromosome Mapping, Chromosomes, Human, Pair 17, genetics: Endoribonucleases, Humans, Models, Molecular, Mutation, Polymorphism, Single Nucleotide, abnormalities: Pons, Syndrome",

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",

year = "2008",

month = sep,

doi = "10.1038/ng.204",

language = "English",

volume = "40",

pages = "1113--1118",

journal = "Nature Genetics",

issn = "1061-4036",

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

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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

PY - 2008/9

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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. © 2008 Nature Publishing Group.

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. © 2008 Nature Publishing Group.

KW - metabolism: Brain

KW - abnormalities: Cerebellum

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 17

KW - genetics: Endoribonucleases

KW - Humans

KW - Models, Molecular

KW - Mutation

KW - Polymorphism, Single Nucleotide

KW - abnormalities: Pons

KW - Syndrome

U2 - 10.1038/ng.204

DO - 10.1038/ng.204

M3 - Article

SN - 1061-4036

VL - 40

SP - 1113

EP - 1118

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

Abstract

Keywords

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