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
Descripción
Sumario: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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