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Select item 61662451.

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti

Cell Rep. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Cell Rep. 2018 Jan 2; 22(1): 189–205. doi: 10.1016/j.celrep.2017.12.038

PMCID:: PMC6166245

Abstract Article PDF–4.8M

Select item 65098622.

Absence of BBSome function leads to astrocyte reactivity in the brain

Minati Singh, Janelle E. Garrison, Kai Wang, Val C. Sheffield

Mol Brain. 2019; 12: 48. Published online 2019 May 9. doi: 10.1186/s13041-019-0466-z

PMCID:: PMC6509862

Abstract Article PDF–8.2M

Select item 58862283.

Bardet–Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons

Tanya L Dilan, Ratnesh K Singh, Thamaraiselvi Saravanan, Abigail Moye, Andrew F X Goldberg, Peter Stoilov, Visvanathan Ramamurthy

Hum Mol Genet. 2018 Jan 15; 27(2): 283–294. Published online 2017 Nov 8. doi: 10.1093/hmg/ddx399

PMCID:: PMC5886228

Abstract Article PDF–1.4M

Select item 56636284.

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment

Ying Hsu, Janelle E. Garrison, Gunhee Kim, Addison R. Schmitz, Charles C. Searby, Qihong Zhang, Poppy Datta, Darryl Y. Nishimura, Seongjin Seo, Val C. Sheffield

PLoS Genet. 2017 Oct; 13(10): e1007057. Published online 2017 Oct 19. doi: 10.1371/journal.pgen.1007057

PMCID:: PMC5663628

Abstract Article PDF–107M

Select item 80618715.

A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment

Thomas K. Pak, Calvin S. Carter, Qihong Zhang, Sunny C. Huang, Charles Searby, Ying Hsu, Rebecca J. Taugher, Tim Vogel, Christopher C. Cychosz, Rachel Genova, Nina N. Moreira, Hanna Stevens, John A. Wemmie, Andrew A. Pieper, Kai Wang, Val C. Sheffield

PLoS Genet. 2021 Apr; 17(4): e1009484. Published online 2021 Apr 22. doi: 10.1371/journal.pgen.1009484

PMCID:: PMC8061871

Abstract Article PDF–3.2M

Select item 72399206.

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

Abstract Article PDF–7.8M

Select item 33155327.

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

Shobi Veleri, Kevin Bishop, Damian E. Dalle Nogare, Milton A. English, Trevor J. Foskett, Ajay Chitnis, Raman Sood, Paul Liu, Anand Swaroop

PLoS One. 2012; 7(3): e34389. Published online 2012 Mar 29. doi: 10.1371/journal.pone.0034389

PMCID:: PMC3315532

Abstract Article PDF–5.0M

Select item 37661808.

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 44056369.

Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa

Daniel Murphy, Ratnesh Singh, Saravanan Kolandaivelu, Visvanathan Ramamurthy, Peter Stoilov

Mol Cell Biol. 2015 May; 35(10): 1860–1870. Prepublished online 2015 Mar 16. Published online 2015 Apr 21. doi: 10.1128/MCB.00040-15

PMCID:: PMC4405636

Abstract Article PDF–3.0M

Select item 312183810.

Loss of Bardet–Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

Abigail L. D. Tadenev, Heather M. Kulaga, Helen L. May-Simera, Matthew W. Kelley, Nicholas Katsanis, Randall R. Reed

Proc Natl Acad Sci U S A. 2011 Jun 21; 108(25): 10320–10325. Published online 2011 Jun 6. doi: 10.1073/pnas.1016531108

PMCID:: PMC3121838

Abstract Article PDF–1.3M

Select item 44352411.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

Oliver E. Blacque, Michael J. Reardon, Chunmei Li, Jonathan McCarthy, Moe R. Mahjoub, Stephen J. Ansley, Jose L. Badano, Allan K. Mah, Philip L. Beales, William S. Davidson, Robert C. Johnsen, Mark Audeh, Ronald H.A. Plasterk, David L. Baillie, Nicholas Katsanis, Lynne M. Quarmby, Stephen R. Wicks, Michel R. Leroux

Genes Dev. 2004 Jul 1; 18(13): 1630–1642. doi: 10.1101/gad.1194004

PMCID:: PMC443524

Abstract Article PDF–327K

Select item 417154012.

Regulation of Cilium Length and Intraflagellar Transport by the RCK-Kinases ICK and MOK in Renal Epithelial Cells

Joost R. Broekhuis, Kristen J. Verhey, Gert Jansen

PLoS One. 2014; 9(9): e108470. Published online 2014 Sep 22. doi: 10.1371/journal.pone.0108470

PMCID:: PMC4171540

Abstract Article PDF–2.5M

Select item 430299813.

Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea

Helen L. May-Simera, Ronald S. Petralia, Mireille Montcouquiol, Ya-Xian Wang, Katherine B. Szarama, Yun Liu, Weichun Lin, Michael R. Deans, Gregory J. Pazour, Matthew W. Kelley

Development. 2015 Feb 1; 142(3): 555–566. doi: 10.1242/dev.113696

PMCID:: PMC4302998

Abstract Article

Select item 1110577014.

Bardet–Biedl Syndrome proteins regulate cilia disassembly during tissue maturation

Sarita Rani Patnaik, Viola Kretschmer, Lena Brücker, Sandra Schneider, Ann-Kathrin Volz, Liliana del Rocio Oancea-Castillo, Helen Louise May-Simera

Cell Mol Life Sci. 2019 Feb; 76(4): 757–775. Published online 2018 Nov 16. doi: 10.1007/s00018-018-2966-x

PMCID:: PMC11105770

Abstract Article PDF–3.0M

Select item 527047815.

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 320791016.

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 325114517.

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 337024618.

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 392368319.

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 343425120.

The BBSome controls IFT assembly and turnaround in cilia

Qing Wei, Yuxia Zhang, Yujie Li, Qing Zhang, Kun Ling, Jinghua Hu

Nat Cell Biol. Author manuscript; available in PMC 2013 Mar 1.

Published in final edited form as: Nat Cell Biol. 2012 Sep; 14(9): 950–957. Published online 2012 Aug 26. doi: 10.1038/ncb2560

PMCID:: PMC3434251

Abstract Article PDF–1.3M

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PMC Links for Gene (Select 76260) (31)
PMC
calmodulin-lysine N-methyltransferase isoform X4 [Homo sapiens]
calmodulin-lysine N-methyltransferase isoform X4 [Homo sapiens]
gi|1034616741|ref|XP_016860471.1|

Protein
protein ARK2N isoform X3 [Mus musculus]
protein ARK2N isoform X3 [Mus musculus]
gi|755562047|ref|XP_011245371.1|

Protein
PREDICTED: Mus musculus arkadia (RNF111) N-terminal like PKA signaling regulator...
PREDICTED: Mus musculus arkadia (RNF111) N-terminal like PKA signaling regulator 2N (Ark2n), transcript variant X3, mRNA
gi|1907129160|ref|XM_011247069.4|

Nucleotide
PREDICTED: Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), transcri...
PREDICTED: Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), transcript variant X6, mRNA
gi|2217331115|ref|XM_047445879.1|

Nucleotide

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