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Items: 1 to 20 of 66

1.
BBS4 directly affects proliferation and differentiation of adipocytes
Olga Aksanov, Pnina Green, Ruth Z. Birk
Cell Mol Life Sci. 2014 Sep; 71(17): 3381–3392. Published online 2014 Feb 6. doi: 10.1007/s00018-014-1571-x
PMCID:
PMC11113930
AbstractArticlePDF–1.2M
2.
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
AbstractArticlePDF–3.9M
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.
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins
Jacqueline S. Domire, Jill A. Green, Kirsten G. Lee, Andrew D. Johnson, Candice C. Askwith, Kirk Mykytyn
Cell Mol Life Sci. 2011 Sep; 68(17): 2951–2960. Published online 2010 Dec 9. doi: 10.1007/s00018-010-0603-4
PMCID:
PMC3368249
AbstractArticlePDF–535K
5.
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
PMCID:
PMC2661240
AbstractArticlePDF–2.0M
6.
Bardet–Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
Kirk Mykytyn, Robert F. Mullins, Michael Andrews, Annie P. Chiang, Ruth E. Swiderski, Baoli Yang, Terry Braun, Thomas Casavant, Edwin M. Stone, Val C. Sheffield
Proc Natl Acad Sci U S A. 2004 Jun 8; 101(23): 8664–8669. Published online 2004 Jun 1. doi: 10.1073/pnas.0402354101
PMCID:
PMC423252
AbstractArticlePDF–735K
7.
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
8.
Ubiquitin chains earmark GPCRs for BBSome-mediated removal from cilia
Swapnil Rohidas Shinde, Andrew R. Nager, Maxence V. Nachury
J Cell Biol. 2020 Dec 7; 219(12): e202003020. Published online 2020 Nov 13. doi: 10.1083/jcb.202003020
PMCID:
PMC7716378
AbstractArticlePDF–4.5M
9.
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons
Naila Haq, Christoph Schmidt-Hieber, Fernando J. Sialana, Lorenza Ciani, Janosch P. Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J. Rodenburg, Patrick M. Nolan, Elizabeth Forsythe, Michael C. Wu, Gert Lubec, P. Salinas, Michael Häusser, Philip L. Beales, Sofia Christou-Savina
PLoS Biol. 2019 Sep; 17(9): e3000414. Published online 2019 Sep 3. doi: 10.1371/journal.pbio.3000414
Correction in:
PLoS Biol. 2019 Oct; 17(10): e3000520.
PMCID:
PMC6743795
AbstractArticlePDF–3.1M
10.
Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia
Corey L. Williams, Jeremy C. McIntyre, Stephen R. Norris, Paul M. Jenkins, Lian Zhang, Qinglin Pei, Kristen Verhey, Jeffrey R. Martens
Nat Commun. 2014 Dec 15; 5: 5813. Published online 2014 Dec 15. doi: 10.1038/ncomms6813
PMCID:
PMC4284812
AbstractArticlePDF–4.8M
11.
Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice
Nicolas F. Berbari, Raymond C. Pasek, Erik B. Malarkey, S. M. Zaki Yazdi, Andrew D. McNair, Wesley R. Lewis, Tim R. Nagy, Robert A. Kesterson, Bradley K. Yoder
Proc Natl Acad Sci U S A. 2013 May 7; 110(19): 7796–7801. Published online 2013 Apr 18. doi: 10.1073/pnas.1210192110
PMCID:
PMC3651481
AbstractArticlePDF–2.2M
12.
Inactivation of Bardet-Biedl syndrome genes causes kidney defects
Deng-Fu Guo, Andreas M. Beyer, Baoli Yang, Darryl Y. Nishimura, Val C. Sheffield, Kamal Rahmouni
Am J Physiol Renal Physiol. 2011 Feb; 300(2): F574–F580. doi: 10.1152/ajprenal.00150.2010
PMCID:
PMC3043995
AbstractArticle
13.
Reversal of ciliary mechanisms of disassembly rescues olfactory dysfunction in ciliopathies
Chao Xie, Julien C. Habif, Kirill Ukhanov, Cedric R. Uytingco, Lian Zhang, Robert J. Campbell, Jeffrey R. Martens
JCI Insight. 2022 Aug 8; 7(15): e158736. Published online 2022 Aug 8. doi: 10.1172/jci.insight.158736
PMCID:
PMC9462494
AbstractArticlePDF–2.1M
14.
Islet vascularization is regulated by primary endothelial cilia via VEGF-A-dependent signaling
Yan Xiong, M Julia Scerbo, Anett Seelig, Francesco Volta, Nils O'Brien, Andrea Dicker, Daniela Padula, Heiko Lickert, Jantje Mareike Gerdes, Per-Olof Berggren
eLife. 2020; 9: e56914. Published online 2020 Nov 17. doi: 10.7554/eLife.56914
PMCID:
PMC7695455
AbstractArticlePDF–8.3M
15.
Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy
Michael A. Robichaux, Valencia L. Potter, Zhixian Zhang, Feng He, Jun Liu, Michael F. Schmid, Theodore G. Wensel
Proc Natl Acad Sci U S A. 2019 Nov 19; 116(47): 23562–23572. Published online 2019 Nov 5. doi: 10.1073/pnas.1902003116
PMCID:
PMC6876244
AbstractArticlePDF–2.8M
16.
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
AbstractArticlePDF–1.0M
17.
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity
Daniel Jagger, Gayle Collin, John Kelly, Emily Towers, Graham Nevill, Chantal Longo-Guess, Jennifer Benson, Karin Halsey, David Dolan, Jan Marshall, Jürgen Naggert, Andrew Forge
Hum Mol Genet. 2011 Feb 1; 20(3): 466–481. Published online 2010 Nov 11. doi: 10.1093/hmg/ddq493
PMCID:
PMC3016908
AbstractArticlePDF–1.2M
18.
Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance
Oksana Tsyklauri, Veronika Niederlova, Elizabeth Forsythe, Avishek Prasai, Ales Drobek, Petr Kasparek, Kathryn Sparks, Zdenek Trachtulec, Jan Prochazka, Radislav Sedlacek, Philip Beales, Martina Huranova, Ondrej Stepanek
EMBO Rep. 2021 Feb 3; 22(2): e50785. Published online 2021 Jan 11. doi: 10.15252/embr.202050785
PMCID:
PMC7857422
AbstractArticlePDF–1.6M
19.
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina
Ying Hsu, Janelle E. Garrison, Seongjin Seo, Val C. Sheffield
Sci Rep. 2020; 10: 8321. Published online 2020 May 20. doi: 10.1038/s41598-020-65233-4
PMCID:
PMC7239920
AbstractArticlePDF–7.8M
20.
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

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