Article
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Nature - 13 Sept 2012
Deardorff Matthew A, Bando Masashige, Nakato Ryuichiro, Watrin Erwan, Itoh Takehiko, Minamino Masashi, Saitoh Katsuya, Komata Makiko, Katou Yuki, Clark Dinah, Cole Kathryn E, De Baere Elfride, Decroos Christophe, Di Donato Nataliya, 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
Abstract excerpt
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by mutations in the core cohesin components SMC1A (~5%) and SMC3 (<1%) for a smaller fraction of probands. In humans, the multisubunit complex cohesin is made up of SMC1, SMC3, RAD21 and a STAG protein. These...
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