Absence of BBSome function leads to astrocyte reactivity in the brain

by Minati Singh, Janelle E. Garrison, Kai Wang, Val C. Sheffield
Published 2019-05-01

Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model.

by Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Published 2018-01-01

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

by Xitiz Chamling, Seongjin Seo, Charles C Searby, Gunhee Kim, Diane C Slusarski, Val C Sheffield
Published 2014-02-01

Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.

by Khristofor Agassandian, Milan Patel, Marianna Agassandian, Karina E Steren, Kamal Rahmouni, Val C Sheffield, J Patrick Card
Published 2014-01-01

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened.

by Seongjin Seo, Qihong Zhang, Kevin Bugge, David K Breslow, Charles C Searby, Maxence V Nachury, Val C Sheffield
Published 2011-11-01

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.

by Rachel D Starks, Andreas M Beyer, Deng Fu Guo, Lauren Boland, Qihong Zhang, Val C Sheffield, Kamal Rahmouni
Published 2015-06-01

Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin

by Ramesh B. Kasetti, Prabhavathi Maddineni, Charles Kiehlbauch, Shruti Patil, Charles C. Searby, Beth Levine, Val C. Sheffield, Gulab S. Zode
Published 2021-03-01

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

by Xitiz Chamling, Seongjin Seo, Kevin Bugge, Charles Searby, Deng F Guo, Arlene V Drack, Kamal Rahmouni, Val C Sheffield
Published 2013-01-01

The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane.

by Deng-Fu Guo, Huxing Cui, Qihong Zhang, Donald A Morgan, Daniel R Thedens, Darryl Nishimura, Justin L Grobe, Val C Sheffield, Kamal Rahmouni
Published 2016-02-01

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

by Charles Anthony Scott, Autumn N Marsden, Michael R Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C Searby, Lisa M Baye, Val C Sheffield, Diane C Slusarski
Published 2017-07-01

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

by 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
Published 2017-10-01

ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load

by Ramesh B. Kasetti, Pinkal D. Patel, Prabhavathi Maddineni, Shruti Patil, Charles Kiehlbauch, J. Cameron Millar, Charles C. Searby, VijayKrishna Raghunathan, Val C. Sheffield, Gulab S. Zode
Published 2020-11-01

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

by Vinit B Mahajan, Jessica M Skeie, Alexander G Bassuk, John H Fingert, Terry A Braun, Heather T Daggett, James C Folk, Val C Sheffield, Edwin M Stone
Published 2012-01-01

Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.

by Sitvanit Haziza, Roberta Magnani, Dima Lan, Omer Keinan, Ann Saada, Eli Hershkovitz, Nurit Yanay, Yoram Cohen, Yoram Nevo, Robert L Houtz, Val C Sheffield, Hava Golan, Ruti Parvari
Published 2015-08-01

Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform.

by 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
Published 2010-03-01

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

by 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
Published 2021-04-01

A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.

by Todd E Scheetz, John H Fingert, Kai Wang, Markus H Kuehn, Kevin L Knudtson, Wallace L M Alward, H Culver Boldt, Stephen R Russell, James C Folk, Thomas L Casavant, Terry A Braun, Abbot F Clark, Edwin M Stone, Val C Sheffield
Published 2013-01-01

Osteoarthritis-Like Changes in Bardet–Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Infla...

by Isaac D. Sheffield, Mercedes A. McGee, Steven J. Glenn, Da Young Baek, Joshua M. Coleman, Bradley K. Dorius, Channing Williams, Brandon J. Rose, Anthony E. Sanchez, Michael A. Goodman, John M. Daines, Dennis L. Eggett, Val C. Sheffield, Arminda Suli, David L. Kooyman
Published 2018-06-01

Exome-based investigation of the genetic basis of human pigmentary glaucoma

by Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Published 2021-06-01