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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2013
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| Materias: | |
| 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 |