tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

B.S. Budde; Y. Namavar; P.G. Barth; B. Poll-The; G. Nurnberg; C. Becker; F. van Ruissen; M.A.J. Weterman; K. Fluiter; E.T.T. Beek; E. Aronica; M.S. van der Knaap; W. Hohne; M.R. Toliat; Y.J. Crow; M. Steinlin; T. Voit; F. Roelens; W. Brussel; K. Brockmann; M. Kyllerman; E. Boltshauser; G. Hammersen; M. Willemsen; L. Basel-Vanagaite; I. Krageloh-Mann; L.S. de Vries; L. Sztriha; F. Muntoni; C.D. Ferrie; R. Battini; R.C.M. Hennekam; E. Grillo; F.A. Beemer; L.M.E. Stoets; B. Wollnik; P. Nurnberg; F. Baas

doi:10.1038/ng.204

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

B.S. Budde, Y. Namavar, P.G. Barth, B. Poll-The, G. Nurnberg, C. Becker, F. van Ruissen, M.A.J. Weterman, K. Fluiter, E.T.T. Beek, E. Aronica, M.S. van der Knaap, W. Hohne, M.R. Toliat, Y.J. Crow, M. Steinlin, T. Voit, F. Roelens, W. Brussel, K. BrockmannM. Kyllerman, E. Boltshauser, G. Hammersen, M. Willemsen, L. Basel-Vanagaite, I. Krageloh-Mann, L.S. de Vries, L. Sztriha, F. Muntoni, C.D. Ferrie, R. Battini, R.C.M. Hennekam, E. Grillo, F.A. Beemer, L.M.E. Stoets, B. Wollnik, P. Nurnberg, F. Baas

Research output: Contribution to Journal › Article › Academic › 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
Journal	Nature Genetics
Volume	40
Issue number	9
DOIs	https://doi.org/10.1038/ng.204
Publication status	Published - 2008

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Budde, B. S., Namavar, Y., Barth, P. G., Poll-The, B., Nurnberg, G., Becker, C., van Ruissen, F., Weterman, M. A. J., Fluiter, K., Beek, E. T. T., Aronica, E., van der Knaap, M. S., Hohne, 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

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

author = "B.S. Budde and Y. Namavar and P.G. Barth and B. Poll-The and G. Nurnberg and C. Becker and {van Ruissen}, F. and M.A.J. Weterman and K. Fluiter and E.T.T. Beek and E. Aronica and {van der Knaap}, M.S. and W. Hohne and M.R. Toliat and Y.J. Crow and M. Steinlin and T. Voit and F. Roelens and W. Brussel and K. Brockmann and M. Kyllerman and E. Boltshauser and G. Hammersen and M. Willemsen and L. Basel-Vanagaite and I. Krageloh-Mann and {de Vries}, L.S. and L. Sztriha and F. Muntoni and C.D. Ferrie and R. Battini and R.C.M. Hennekam and E. Grillo and F.A. Beemer and L.M.E. Stoets and B. Wollnik and P. Nurnberg and F. Baas",

year = "2008",

doi = "10.1038/ng.204",

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journal = "Nature Genetics",

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Budde, BS, Namavar, Y, Barth, PG, Poll-The, B, Nurnberg, G, Becker, C, van Ruissen, F, Weterman, MAJ, Fluiter, K, Beek, ETT, Aronica, E, van der Knaap, MS, Hohne, 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, Krageloh-Mann, I, de Vries, LS, Sztriha, L, Muntoni, F, Ferrie, CD, Battini, R, Hennekam, RCM, Grillo, E, Beemer, FA, Stoets, LME, Wollnik, B, Nurnberg, 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

TY - JOUR

T1 - tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

AU - Budde, B.S.

AU - Namavar, Y.

AU - Barth, P.G.

AU - Poll-The, B.

AU - Nurnberg, G.

AU - Becker, C.

AU - van Ruissen, F.

AU - Weterman, M.A.J.

AU - Fluiter, K.

AU - Beek, E.T.T.

AU - Aronica, E.

AU - van der Knaap, M.S.

AU - Hohne, W.

AU - Toliat, M.R.

AU - Crow, Y.J.

AU - Steinlin, M.

AU - Voit, T.

AU - Roelens, F.

AU - Brussel, W.

AU - Brockmann, K.

AU - Kyllerman, M.

AU - Boltshauser, E.

AU - Hammersen, G.

AU - Willemsen, M.

AU - Basel-Vanagaite, L.

AU - Krageloh-Mann, I.

AU - de Vries, L.S.

AU - Sztriha, L.

AU - Muntoni, F.

AU - Ferrie, C.D.

AU - Battini, R.

AU - Hennekam, R.C.M.

AU - Grillo, E.

AU - Beemer, F.A.

AU - Stoets, L.M.E.

AU - Wollnik, B.

AU - Nurnberg, P.

AU - Baas, F.

PY - 2008

Y1 - 2008

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.

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

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