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Select item 52704781.

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle

Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y. Cheng, Qing Jiang, Chuanmao Zhang

J Biol Chem. 2017 Jan 27; 292(4): 1351–1360. Published online 2016 Dec 15. doi: 10.1074/jbc.M116.765438

PMCID:: PMC5270478

Abstract Article PDF–3.3M

Select item 39735602.

Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model

Khristofor Agassandian, Milan Patel, Marianna Agassandian, Karina E. Steren, Kamal Rahmouni, Val C. Sheffield, J. Patrick Card

PLoS One. 2014; 9(4): e93484. Published online 2014 Apr 2. doi: 10.1371/journal.pone.0093484

PMCID:: PMC3973560

Abstract Article PDF–3.9M

Select item 39260463.

C2cd3 is critical for centriolar distal appendage assembly and ciliary vesicle docking in mammals

Xuan Ye, Huiqing Zeng, Gang Ning, Jeremy F. Reiter, Aimin Liu

Proc Natl Acad Sci U S A. 2014 Feb 11; 111(6): 2164–2169. Published online 2014 Jan 27. doi: 10.1073/pnas.1318737111

PMCID:: PMC3926046

Abstract Article PDF–1.2M

Select item 39236834.

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield

PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083

PMCID:: PMC3923683

Abstract Article PDF–1.6M

Select item 38579435.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C. Searby, Qihong Zhang, Arlene V. Drack, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2014 Jan 1; 23(1): 40–51. Published online 2013 Aug 13. doi: 10.1093/hmg/ddt394

PMCID:: PMC3857943

Abstract Article PDF–1.7M

Select item 37661806.

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L. Beales

Hum Mol Genet. 2013 Oct 1; 22(19): 3858–3868. Published online 2013 May 27. doi: 10.1093/hmg/ddt241

PMCID:: PMC3766180

Abstract Article PDF–1.6M

Select item 35823377.

Three-Dimensional Architecture of the Rod Sensory Cilium and its Disruption in Retinal Neurodegeneration

Jared C. Gilliam, Juan T. Chang, Ivette M. Sandoval, Youwen Zhang, Tiansen Li, Steven J. Pittler, Wah Chiu, Theodore G. Wensel

Cell. Author manuscript; available in PMC 2013 Nov 21.

Published in final edited form as: Cell. 2012 Nov 21; 151(5): 1029–1041. doi: 10.1016/j.cell.2012.10.038

PMCID:: PMC3582337

Abstract Article PDF–5.8M

Select item 33702468.

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 33152039.

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Qihong Zhang, Seongjin Seo, Kevin Bugge, Edwin M. Stone, Val C. Sheffield

Hum Mol Genet. 2012 May 1; 21(9): 1945–1953. Published online 2012 Jan 6. doi: 10.1093/hmg/dds004

PMCID:: PMC3315203

Abstract Article PDF–301K

Select item 328387310.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano

J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375

PMCID:: PMC3283873

Abstract Article

Select item 325114511.

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Qihong Zhang, Darryl Nishimura, Seongjin Seo, Tim Vogel, Donald A. Morgan, Charles Searby, Kevin Bugge, Edwin M. Stone, Kamal Rahmouni, Val C. Sheffield

Proc Natl Acad Sci U S A. 2011 Dec 20; 108(51): 20678–20683. Published online 2011 Dec 2. doi: 10.1073/pnas.1113220108

PMCID:: PMC3251145

Abstract Article PDF–1.2M

Select item 320791012.

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

Seongjin Seo, Qihong Zhang, Kevin Bugge, David K. Breslow, Charles C. Searby, Maxence V. Nachury, Val C. Sheffield

PLoS Genet. 2011 Nov; 7(11): e1002358. Published online 2011 Nov 3. doi: 10.1371/journal.pgen.1002358

PMCID:: PMC3207910

Abstract Article PDF–6.1M

Select item 317805913.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 307685214.

Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model

David L. Simons, Sanford L. Boye, William W. Hauswirth, Samuel M. Wu

Proc Natl Acad Sci U S A. 2011 Apr 12; 108(15): 6276–6281. Published online 2011 Mar 28. doi: 10.1073/pnas.1019222108

PMCID:: PMC3076852

Abstract Article PDF–1.0M

Select item 286899715.

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Darryl Y. Nishimura, Lisa M. Baye, Rahat Perveen, Charles C. Searby, Almudena Avila-Fernandez, Ines Pereiro, Carmen Ayuso, Diana Valverde, Paul N. Bishop, Forbes D.C. Manson, Jill Urquhart, Edwin M. Stone, Diane C. Slusarski, Graeme C.M. Black, Val C. Sheffield

Am J Hum Genet. 2010 May 14; 86(5): 686–695. doi: 10.1016/j.ajhg.2010.03.005

PMCID:: PMC2868997

Abstract Article PDF–1.4M

Select item 282439016.

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

Seongjin Seo, Lisa M. Baye, Nathan P. Schulz, John S. Beck, Qihong Zhang, Diane C. Slusarski, Val C. Sheffield

Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4): 1488–1493. Published online 2010 Jan 6. doi: 10.1073/pnas.0910268107

PMCID:: PMC2824390

Abstract Article PDF–1009K

Select item 272792817.

PCM1 is recruited to the centrosome by the cooperative action of DISC1 and BBS4 and is a candidate for psychiatric illness

Atsushi Kamiya, Perciliz L. Tan, Ken-ichiro Kubo, Caitlin Engelhard, Koko Ishizuka, Akiharu Kubo, Sachiko Tsukita, Ann E. Pulver, Kazunori Nakajima, Nicola G. Cascella, Nicholas Katsanis, Akira Sawa

Arch Gen Psychiatry. Author manuscript; available in PMC 2009 Aug 17.

Published in final edited form as: Arch Gen Psychiatry. 2008 Sep; 65(9): 996–1006. doi: 10.1001/archpsyc.65.9.996

PMCID:: PMC2727928

Abstract Article PDF–3.5M

Select item 266124018.

Impaired Photoreceptor Protein Transport and Synaptic Transmission in a Mouse Model of Bardet-Biedl Syndrome

Muhammad M. Abd-El-Barr, Kristen Sykoudis, Sara Andrabi, Erica R. Eichers, Mark E. Pennesi, Perciliz L. Tan, John H. Wilson, Nicholas Katsanis, James R. Lupski, Samuel M. Wu

Vision Res. Author manuscript; available in PMC 2009 Mar 26.

Published in final edited form as: Vision Res. 2007 Dec; 47(27): 3394–3407. doi: 10.1016/j.visres.2007.09.016