PMC Links for Protein (Select 68533242) - PMC

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Items: 2

Select item 63975731.

The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK

Solmi Cheon, Kiran Kaur, Nadine Nijem, Islam Oguz Tuncay, Pooja Kumar, Milan Dean, Jane Juusola, Maria J. Guillen-Sacoto, Emma Bedoukian, Lynne Ierardi-Curto, Paige Kaplan, G. Bradley Schaefer, Prashant Mishra, Maria H. Chahrour

Proc Natl Acad Sci U S A. 2019 Feb 26; 116(9): 3662–3667. Published online 2019 Feb 11. doi: 10.1073/pnas.1818751116

PMCID:: PMC6397573

Abstract Article PDF–1012K

Select item 35165912.

Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Julie Désir, Marc Abramowicz, Maria Lisa Dentici, Francesca Lepri, Kay Hofmann, Adi Har-Zahav, Edward Ryder, Natasha A. Karp, Jeanne Estabel, Anna-Karin B. Gerdin, Christine Podrini, Neil J. Ingham, Janine Altmüller, Gudrun Nürnberg, Peter Frommolt, Sonia Abdelhak, Metsada Pasmanik-Chor, Osnat Konen, Richard I. Kelley, Mordechai Shohat, Peter Nürnberg, Jonathan Flint, Karen P. Steel, Thorsten Hoppe, Christian Kubisch, David J. Adams, Guntram Borck

Am J Hum Genet. 2012 Dec 7; 91(6): 998–1010. doi: 10.1016/j.ajhg.2012.10.011