Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

Mutations within subunits of the tRNA splicing endonuclease complex (TSEN) are associated with pontocerebellar hypoplasia (PCH). Here the authors show that tRNA intron excision is catalyzed by tetrameric TSEN assembled from inactive heterodimers, and provide evidence that modulation of TSEN stabilit...

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Autores principales: Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, Ewan Phillip Ramsay, Marie Barth, Carla Schmidt, Thomas Tuschl, Frank Baas, Stefan Weitzer, Javier Martinez, Simon Trowitzsch
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/68d286e180e8444da88ca21abb2914d7
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spelling oai:doaj.org-article:68d286e180e8444da88ca21abb2914d72021-12-02T17:18:17ZAssembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia10.1038/s41467-021-25870-32041-1723https://doaj.org/article/68d286e180e8444da88ca21abb2914d72021-09-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-25870-3https://doaj.org/toc/2041-1723Mutations within subunits of the tRNA splicing endonuclease complex (TSEN) are associated with pontocerebellar hypoplasia (PCH). Here the authors show that tRNA intron excision is catalyzed by tetrameric TSEN assembled from inactive heterodimers, and provide evidence that modulation of TSEN stability may contribute to PCH phenotypes.Samoil SekulovskiPascal DevantSilvia PanizzaTasos GogakosAnda PitiriciuKatharina HeitmeierEwan Phillip RamsayMarie BarthCarla SchmidtThomas TuschlFrank BaasStefan WeitzerJavier MartinezSimon TrowitzschNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
Samoil Sekulovski
Pascal Devant
Silvia Panizza
Tasos Gogakos
Anda Pitiriciu
Katharina Heitmeier
Ewan Phillip Ramsay
Marie Barth
Carla Schmidt
Thomas Tuschl
Frank Baas
Stefan Weitzer
Javier Martinez
Simon Trowitzsch
Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
description Mutations within subunits of the tRNA splicing endonuclease complex (TSEN) are associated with pontocerebellar hypoplasia (PCH). Here the authors show that tRNA intron excision is catalyzed by tetrameric TSEN assembled from inactive heterodimers, and provide evidence that modulation of TSEN stability may contribute to PCH phenotypes.
format article
author Samoil Sekulovski
Pascal Devant
Silvia Panizza
Tasos Gogakos
Anda Pitiriciu
Katharina Heitmeier
Ewan Phillip Ramsay
Marie Barth
Carla Schmidt
Thomas Tuschl
Frank Baas
Stefan Weitzer
Javier Martinez
Simon Trowitzsch
author_facet Samoil Sekulovski
Pascal Devant
Silvia Panizza
Tasos Gogakos
Anda Pitiriciu
Katharina Heitmeier
Ewan Phillip Ramsay
Marie Barth
Carla Schmidt
Thomas Tuschl
Frank Baas
Stefan Weitzer
Javier Martinez
Simon Trowitzsch
author_sort Samoil Sekulovski
title Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
title_short Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
title_full Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
title_fullStr Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
title_full_unstemmed Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia
title_sort assembly defects of human trna splicing endonuclease contribute to impaired pre-trna processing in pontocerebellar hypoplasia
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/68d286e180e8444da88ca21abb2914d7
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