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Select item 55191311.

Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures

Makiri Kawasaki, Yayoi Izu, Tadayoshi Hayata, Hisashi Ideno, Akira Nifuji, Val C. Sheffield, Yoichi Ezura, Masaki Noda

Bone. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Bone. 2017 Aug; 101: 179–190. Published online 2016 May 8. doi: 10.1016/j.bone.2016.02.017

PMCID:: PMC5519131

Abstract Article PDF–902K

Select item 32511452.

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 70075193.

Intraflagellar transport protein RABL5/IFT22 recruits the BBSome to the basal body through the GTPase ARL6/BBS3

Bin Xue, Yan-Xia Liu, Bin Dong, Jenna L. Wingfield, Mingfu Wu, Jun Sun, Karl F. Lechtreck, Zhen-Chuan Fan

Proc Natl Acad Sci U S A. 2020 Feb 4; 117(5): 2496–2505. Published online 2020 Jan 17. doi: 10.1073/pnas.1901665117

PMCID:: PMC7007519

Abstract Article PDF–2.0M

Select item 42556294.

The Intraflagellar Transport Protein IFT27 Promotes BBSome Exit from Cilia through the GTPase ARL6/BBS3

Gerald M. Liew, Fan Ye, Andrew R. Nager, J. Patrick Murphy, Jaclyn S. Lee, Mike Aguiar, David K. Breslow, Steven P. Gygi, Maxence V. Nachury

Dev Cell. Author manuscript; available in PMC 2015 Nov 10.

Published in final edited form as: Dev Cell. 2014 Nov 10; 31(3): 265–278. Published online 2014 Oct 30. doi: 10.1016/j.devcel.2014.09.004

PMCID:: PMC4255629

Abstract Article PDF–2.2M

Select item 37938605.

A role for the vesicle-associated tubulin binding protein ARL6 (BBS3) in flagellum extension in Trypanosoma brucei

Helen P. Price, Michael R. Hodgkinson, Megan H. Wright, Edward W. Tate, Barbara A. Smith, Mark Carrington, Meg Stark, Deborah F. Smith

Biochim Biophys Acta. 2012 Jul; 1823(7): 1178–1191. doi: 10.1016/j.bbamcr.2012.05.007

PMCID:: PMC3793860

Abstract Article PDF–1.1M

Select item 35889156.

Crystal Structure of the Small GTPase Arl6/BBS3 from Trypanosoma brucei

Glyn R Hemsworth, Helen P Price, Deborah F Smith, Keith S Wilson

Protein Sci. 2013 Feb; 22(2): 196–203. Published online 2012 Nov 26. doi: 10.1002/pro.2198

PMCID:: PMC3588915

Abstract Article PDF–864K

Select item 30639887.

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

Pamela R. Pretorius, Mohammed A. Aldahmesh, Fowzan S. Alkuraya, Val C. Sheffield, Diane C. Slusarski

Hum Mol Genet. 2011 Apr 15; 20(8): 1625–1632. Published online 2011 Jan 31. doi: 10.1093/hmg/ddr039

PMCID:: PMC3063988

Abstract Article PDF–356K

Select item 28714898.

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling

Cheryl J. Wiens, Yufeng Tong, Muneer A. Esmail, Edwin Oh, Jantje M. Gerdes, Jihong Wang, Wolfram Tempel, Jerome B. Rattner, Nicholas Katsanis, Hee-Won Park, Michel R. Leroux

J Biol Chem. 2010 May 21; 285(21): 16218–16230. Published online 2010 Mar 5. doi: 10.1074/jbc.M109.070953

PMCID:: PMC2871489

Abstract Article PDF–2.6M

Select item 28416239.

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

Pamela R. Pretorius, Lisa M. Baye, Darryl Y. Nishimura, Charles C. Searby, Kevin Bugge, Baoli Yang, Robert F. Mullins, Edwin M. Stone, Val C. Sheffield, Diane C. Slusarski

PLoS Genet. 2010 Mar; 6(3): e1000884. Published online 2010 Mar 19. doi: 10.1371/journal.pgen.1000884

PMCID:: PMC2841623

Abstract Article PDF–1.9M

Select item 118202510.

Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)

Annie P. Chiang, Darryl Nishimura, Charles Searby, Khalil Elbedour, Rivka Carmi, Amanda L. Ferguson, Jenifer Secrist, Terry Braun, Thomas Casavant, Edwin M. Stone, Val C. Sheffield

Am J Hum Genet. 2004 Sep; 75(3): 475–484. Published online 2004 Jul 16. doi: 10.1086/423903

PMCID:: PMC1182025

Abstract Article PDF–764K

Select item 1007411811.

Ubiquitylation of BBSome is required for ciliary assembly and signaling

Francesco Chiuso, Rossella delle Donne, Giuliana Giamundo, Laura Rinaldi, Domenica Borzacchiello, Federica Moraca, Daniela Intartaglia, Rosa Iannucci, Emanuela Senatore, Luca Lignitto, Corrado Garbi, Paolo Conflitti, Bruno Catalanotti, Ivan Conte, Antonio Feliciello

EMBO Rep. 2023 Apr; 24(4): e55571. Published online 2023 Feb 6. doi: 10.15252/embr.202255571

PMCID:: PMC10074118

Abstract Article PDF–6.3M

Select item 1006881512.

Unraveling the intricate cargo-BBSome coupling mechanism at the ciliary tip

Yan-Xia Liu, Wen-Juan Li, Rui-Kai Zhang, Sheng-Nan Sun, Zhen-Chuan Fan

Proc Natl Acad Sci U S A. 2023 Mar 28; 120(13): e2218819120. Published online 2023 Mar 21. doi: 10.1073/pnas.2218819120

PMCID:: PMC10068815

Abstract Article PDF–3.1M

Select item 995686213.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar

Genes (Basel) 2023 Feb; 14(2): 404. Published online 2023 Feb 3. doi: 10.3390/genes14020404

PMCID:: PMC9956862

Abstract Article PDF–1.5M

Select item 977126814.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo

Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161