Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation

Hbs1 has been established as a central component of the cell’s translational quality control pathways in both yeast and prokaryotic models; however, the functional characteristics of its human ortholog (Hbs1L) have not been well-defined. We recently reported a novel human phenotype resulting from a...

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Publicado en:PLoS Genet
Autores principales: O’Connell, Amy E., Gerashchenko, Maxim V., O’Donohue, Marie-Francoise, Rosen, Samantha M., Huntzinger, Eric, Gleeson, Diane, Galli, Antonella, Ryder, Edward, Cao, Siqi, Murphy, Quinn, Kazerounian, Shideh, Morton, Sarah U., Schmitz-Abe, Klaus, Gladyshev, Vadim N., Gleizes, Pierre-Emmanuel, Séraphin, Bertrand, Agrawal, Pankaj B.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6373978/
https://ncbi.nlm.nih.gov/pubmed/30707697
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007917
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