A novel cause for primordial dwarfism revealed: defective tRNA modification

A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism. See related Research article: http://www.genomebiology.com/2015/16/1/210.

Detalles Bibliográficos
Autores principales: Filonava, Liudmila, Torres, Adrian Gabriel, de Pouplana, Lluis Ribas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591068/
https://www.ncbi.nlm.nih.gov/pubmed/26429597
http://dx.doi.org/10.1186/s13059-015-0786-y
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author Filonava, Liudmila
Torres, Adrian Gabriel
de Pouplana, Lluis Ribas
author_facet Filonava, Liudmila
Torres, Adrian Gabriel
de Pouplana, Lluis Ribas
author_sort Filonava, Liudmila
collection PubMed
description A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism. See related Research article: http://www.genomebiology.com/2015/16/1/210.
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spelling pubmed-45910682015-10-03 A novel cause for primordial dwarfism revealed: defective tRNA modification Filonava, Liudmila Torres, Adrian Gabriel de Pouplana, Lluis Ribas Genome Biol Research Highlight A mutation in the WDR4 gene, coding for a tRNA-modifying enzyme, leads to reduced levels of guanosine methylation in tRNA in patients with primordial dwarfism. See related Research article: http://www.genomebiology.com/2015/16/1/210. BioMed Central 2015-10-01 2015 /pmc/articles/PMC4591068/ /pubmed/26429597 http://dx.doi.org/10.1186/s13059-015-0786-y Text en © Filonava et al. 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Highlight
Filonava, Liudmila
Torres, Adrian Gabriel
de Pouplana, Lluis Ribas
A novel cause for primordial dwarfism revealed: defective tRNA modification
title A novel cause for primordial dwarfism revealed: defective tRNA modification
title_full A novel cause for primordial dwarfism revealed: defective tRNA modification
title_fullStr A novel cause for primordial dwarfism revealed: defective tRNA modification
title_full_unstemmed A novel cause for primordial dwarfism revealed: defective tRNA modification
title_short A novel cause for primordial dwarfism revealed: defective tRNA modification
title_sort novel cause for primordial dwarfism revealed: defective trna modification
topic Research Highlight
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591068/
https://www.ncbi.nlm.nih.gov/pubmed/26429597
http://dx.doi.org/10.1186/s13059-015-0786-y
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