Stimulation of mTORC1 with L-leucine Rescues Defects Associated with Roberts Syndrome

Roberts syndrome (RBS) is a human disease characterized by defects in limb and craniofacial development and growth and mental retardation. RBS is caused by mutations in ESCO2, a gene which encodes an acetyltransferase for the cohesin complex. While the essential role of the cohesin complex in chromo...

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Detalles Bibliográficos
Autores principales: Xu, Baoshan, Lee, Kenneth K., Zhang, Lily, Gerton, Jennifer L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789817/
https://www.ncbi.nlm.nih.gov/pubmed/24098154
http://dx.doi.org/10.1371/journal.pgen.1003857

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3789817/
https://www.ncbi.nlm.nih.gov/pubmed/24098154
http://dx.doi.org/10.1371/journal.pgen.1003857

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