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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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Detalhes bibliográficos
Main Authors: Xu, Baoshan, Lee, Kenneth K., Zhang, Lily, Gerton, Jennifer L.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3789817/
https://ncbi.nlm.nih.gov/pubmed/24098154
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003857
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