HDAC8 mutations in Cornelia de Lange Syndrome affect the cohesin acetylation cycle

Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder caused by mutations in the cohesin-loading protein NIPBL(1,2) for nearly 60% of individuals with classical CdLS(3-5) and in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of...

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Detalles Bibliográficos
Autores principales: Deardorff, Matthew A., Bando, Masashige, Nakato, Ryuichiro, Watrin, Erwan, Itoh, Takehiko, Minamino, Masashi, Saitoh, Katsuya, Komata, Makiko, Katou, Yuki, Clark, Dinah, Cole, Kathryn E., Baere, Elfride De, Decroos, Christophe, Donato, Nataliya Di, Ernst, Sarah, Francey, Lauren J., Gyftodimou, Yolanda, Hirashima, Kyotaro, Hullings, Melanie, Ishikawa, Yuuichi, Jaulin, Christian, Kaur, Maninder, Kiyono, Tohru, Lombardi, Patrick M., Magnaghi-Jaulin, Laura, Mortier, Geert R., Nozaki, Naohito, Petersen, Michael B., Seimiya, Hiroyuki, Siu, Victoria M., Suzuki, Yutaka, Takagaki, Kentaro, Wilde, Jonathan J., Willems, Patrick J., Prigent, Claude, Gillessen-Kaesbach, Gabriele, Christianson, David W., Kaiser, Frank J., Jackson, Laird G., Hirota, Toru, Krantz, Ian D., Shirahige, Katsuhiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443318/
https://www.ncbi.nlm.nih.gov/pubmed/22885700
http://dx.doi.org/10.1038/nature11316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3443318/
https://www.ncbi.nlm.nih.gov/pubmed/22885700
http://dx.doi.org/10.1038/nature11316

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