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Items: 1 to 20 of 42

1.
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
Miriam Zacchia, Francesca Del Vecchio Blanco, Francesco Trepiccione, Giancarlo Blasio, Annalaura Torella, Andrea Melluso, Giovanna Capolongo, Rosa Maria Pollastro, Giulio Piluso, Valentina Di Iorio, Francesca Simonelli, Davide Viggiano, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso
J Nephrol. 2021; 34(6): 1855–1874. Published online 2021 May 8. doi: 10.1007/s40620-021-01048-4
PMCID:
PMC8610957
AbstractArticlePDF–927K
2.
The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells
Avishek Prasai, Marketa Schmidt Cernohorska, Klara Ruppova, Veronika Niederlova, Monika Andelova, Peter Draber, Ondrej Stepanek, Martina Huranova
J Biol Chem. 2020 Oct 16; 295(42): 14279–14290. Published online 2020 Aug 5. doi: 10.1074/jbc.RA120.013905
PMCID:
PMC7573277
AbstractArticlePDF–4.0M
3.
Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice
Xitiz Chamling, Seongjin Seo, Kevin Bugge, Charles Searby, Deng F. Guo, Arlene V. Drack, Kamal Rahmouni, Val C. Sheffield
PLoS One. 2013; 8(3): e59101. Published online 2013 Mar 15. doi: 10.1371/journal.pone.0059101
PMCID:
PMC3598656
AbstractArticlePDF–6.6M
4.
BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance
Nicholas Katsanis, Erica R. Eichers, Stephen J. Ansley, Richard Alan Lewis, Hülya Kayserili, Bethan E. Hoskins, Peter J. Scambler, Philip L. Beales, James R. Lupski
Am J Hum Genet. 2002 Jul; 71(1): 22–29. Published online 2002 May 15. doi: 10.1086/341031
PMCID:
PMC384990
AbstractArticlePDF–711K
5.
BBS4 Is Necessary for Ciliary Localization of TrkB Receptor and Activation by BDNF
Carmen C. Leitch, Norann A. Zaghloul
PLoS One. 2014; 9(5): e98687. Published online 2014 May 27. doi: 10.1371/journal.pone.0098687
PMCID:
PMC4035337
AbstractArticlePDF–1.1M
6.
Exome capture sequencing identifies a novel mutation in BBS4
Hui Wang, Xianfeng Chen, Lynn Dudinsky, Claire Patenia, Yiyun Chen, Yumei Li, Yue Wei, Emad B. Abboud, Ali A. Al-Rajhi, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Richard A. Gibbs, Brian D. Perkins, Rui Chen
Mol Vis. 2011; 17: 3529–3540. Published online 2011 Dec 30.
PMCID:
PMC3250376
AbstractArticlePDF–4.6M
7.
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia
Cedric R. Uytingco, Corey L. Williams, Chao Xie, Dana T. Shively, Warren W. Green, Kirill Ukhanov, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield, Jeffrey R. Martens
J Cell Sci. 2019 Mar 1; 132(5): jcs222331. Published online 2019 Feb 15. doi: 10.1242/jcs.222331
PMCID:
PMC6432715
AbstractArticle
8.
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Joon Kim, Suguna Rani Krishnaswami, Joseph G. Gleeson
Hum Mol Genet. 2008 Dec 1; 17(23): 3796–3805. Published online 2008 Sep 4. doi: 10.1093/hmg/ddn277
PMCID:
PMC2722899
AbstractArticlePDF–1.3M
9.
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
AbstractArticlePDF–1.6M
10.
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
AbstractArticlePDF–6.3M
11.
Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia
Alok S. Shah, Sara L. Farmen, Thomas O. Moninger, Thomas R. Businga, Michael P. Andrews, Kevin Bugge, Charles C. Searby, Darryl Nishimura, Kim A. Brogden, Joel N. Kline, Val C. Sheffield, Michael J. Welsh
Proc Natl Acad Sci U S A. 2008 Mar 4; 105(9): 3380–3385. Published online 2008 Feb 25. doi: 10.1073/pnas.0712327105
PMCID:
PMC2265193
AbstractArticlePDF–1.2M
12.
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery
Marine Barbelanne, Delowar Hossain, David Puth Chan, Johan Peränen, William Y. Tsang
Hum Mol Genet. 2015 Apr 15; 24(8): 2185–2200. Published online 2014 Dec 30. doi: 10.1093/hmg/ddu738
PMCID:
PMC4380068
AbstractArticlePDF–1.6M
13.
Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein
Xuefeng Su, Kaitlin Driscoll, Gang Yao, Anas Raed, Maoqing Wu, Philip L. Beales, Jing Zhou
Hum Mol Genet. 2014 Oct 15; 23(20): 5441–5451. Published online 2014 Jun 16. doi: 10.1093/hmg/ddu267
PMCID:
PMC4168828
AbstractArticlePDF–1.0M
14.
Basal body proteins regulate Notch signaling through endosomal trafficking
Carmen C. Leitch, Sukanya Lodh, Victoria Prieto-Echagüe, Jose L. Badano, Norann A. Zaghloul
J Cell Sci. 2014 Jun 1; 127(11): 2407–2419. doi: 10.1242/jcs.130344
PMCID:
PMC4038940
AbstractArticle
15.
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators
Yangfan P. Liu, I-Chun Tsai, Manuela Morleo, Edwin C. Oh, Carmen C. Leitch, Filomena Massa, Byung-Hoon Lee, David S. Parker, Daniel Finley, Norann A. Zaghloul, Brunella Franco, Nicholas Katsanis
J Clin Invest. 2014 May 1; 124(5): 2059–2070. Published online 2014 Apr 1. doi: 10.1172/JCI71898
PMCID:
PMC4001542
AbstractArticlePDF–3.8M
16.
Dlec1 is required for spermatogenesis and male fertility in mice
Yu Okitsu, Mamoru Nagano, Takahiro Yamagata, Chizuru Ito, Kiyotaka Toshimori, Hideo Dohra, Wataru Fujii, Keiichiro Yogo
Sci Rep. 2020; 10: 18883. Published online 2020 Nov 3. doi: 10.1038/s41598-020-75957-y
PMCID:
PMC7642295
AbstractArticlePDF–2.3M
17.
The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia
Swapnil Rohidas Shinde, David U. Mick, Erika Aoki, Rachel B. Rodrigues, Steven P. Gygi, Maxence V. Nachury
Dev Cell. Author manuscript; available in PMC 2024 Apr 24.
Published in final edited form as: Dev Cell. 2023 Apr 24; 58(8): 677–693.e9. Published online 2023 Apr 4. doi: 10.1016/j.devcel.2023.03.003
PMCID:
PMC10133032
AbstractArticlePDF–3.4M
18.
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
AbstractArticlePDF–1.7M
19.
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
AbstractArticlePDF–3.5M
20.
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
AbstractArticle

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