PMC Links for Gene (Select 92482) - PMC

Select item 39663001.

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus

J Med Genet. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Med Genet. 2014 Feb; 51(2): 132–136. Published online 2013 Sep 11. doi: 10.1136/jmedgenet-2013-101785

PMCID:: PMC3966300

Abstract Article PDF–1.1M

Select item 28987352.

The conserved Bardet-Biedl Syndrome proteins assemble a coat that traffics membrane proteins to cilia

Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, Maxence V. Nachury

Cell. Author manuscript; available in PMC 2011 Jun 25.

Published in final edited form as: Cell. 2010 Jun 25; 141(7): 1208–1219. doi: 10.1016/j.cell.2010.05.015

PMCID:: PMC2898735

Abstract Article PDF–2.1M

Select item 33702463.

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield

J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487

PMCID:: PMC3370246

Abstract Article PDF–2.3M

Select item 48691704.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491