Absence of BBSome function leads to astrocyte reactivity in the brain

por Singh, Minati, Garrison, Janelle E., Wang, Kai, Sheffield, Val C.
Publicado 2019

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina

por Hsu, Ying, Garrison, Janelle E., Seo, Seongjin, Sheffield, Val C.
Publicado 2020

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

por Zhang, Qihong, Seo, Seongjin, Bugge, Kevin, Stone, Edwin M., Sheffield, Val C.
Publicado 2012

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

por Zhang, Qihong, Yu, Dahai, Seo, Seongjin, Stone, Edwin M., Sheffield, Val C.
Publicado 2012

Genotypic and phenotypic characterization of the Sdccag8(Tn(sb-Tyr)2161B.CA1C2Ove) mouse model

por Weihbrecht, Katie, Goar, Wesley A., Carter, Calvin S., Sheffield, Val C., Seo, Seongjin
Publicado 2018

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

por Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
Publicado 2011

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

por Seo, Seongjin, Guo, Deng-Fu, Bugge, Kevin, Morgan, Donald A., Rahmouni, Kamal, Sheffield, Val C.
Publicado 2009

The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome

por Chamling, Xitiz, Seo, Seongjin, Searby, Charles C., Kim, GunHee, Slusarski, Diane C., Sheffield, Val C.
Publicado 2014

Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma

por Zhu, Wei, Jain, Ankur, Gramlich, Oliver W., Tucker, Budd A., Sheffield, Val C., Kuehn, Markus H.
Publicado 2017

Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model

por Agassandian, Khristofor, Patel, Milan, Agassandian, Marianna, Steren, Karina E., Rahmouni, Kamal, Sheffield, Val C., Card, J. Patrick
Publicado 2014

A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened

por Seo, Seongjin, Zhang, Qihong, Bugge, Kevin, Breslow, David K., Searby, Charles C., Nachury, Maxence V., Sheffield, Val C.
Publicado 2011

Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins

por Starks, Rachel D., Beyer, Andreas M., Guo, Deng Fu, Boland, Lauren, Zhang, Qihong, Sheffield, Val C., Rahmouni, Kamal
Publicado 2015

Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice

por Chamling, Xitiz, Seo, Seongjin, Bugge, Kevin, Searby, Charles, Guo, Deng F., Drack, Arlene V., Rahmouni, Kamal, Sheffield, Val C.
Publicado 2013

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

por Kasetti, Ramesh B., Maddineni, Prabhavathi, Kiehlbauch, Charles, Patil, Shruti, Searby, Charles C., Levine, Beth, Sheffield, Val C., Zode, Gulab S.
Publicado 2021

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

por Baye, Lisa M., Patrinostro, Xiaobai, Swaminathan, Svetha, Beck, John S., Zhang, Yan, Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Publicado 2011

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model

por Cring, Matthew R., Meyer, Kacie J., Searby, Charles C., Hedberg-Buenz, Adam, Cave, Michael, Anderson, Michael G., Wang, Kai, Sheffield, Val C.
Publicado 2022

Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population

por Schindler, Emily I., Nylen, Erik L., Ko, Audrey C., Affatigato, Louisa M., Heggen, Andrew C., Wang, Kai, Sheffield, Val C., Stone, Edwin M.
Publicado 2010

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

por Guo, Deng-Fu, Cui, Huxing, Zhang, Qihong, Morgan, Donald A., Thedens, Daniel R., Nishimura, Darryl, Grobe, Justin L., Sheffield, Val C., Rahmouni, Kamal
Publicado 2016

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients

por Hjortshøj, Tina Duelund, Grønskov, Karen, Philp, Alisdair R, Nishimura, Darryl Y, Adeyemo, Adebowale, Rotimi, Charles N, Sheffield, Val C, Rosenberg, Thomas, Brøndum-Nielsen, Karen
Publicado 2008

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

por Scott, Charles Anthony, Marsden, Autumn N., Rebagliati, Michael R., Zhang, Qihong, Chamling, Xitiz, Searby, Charles C., Baye, Lisa M., Sheffield, Val C., Slusarski, Diane C.
Publicado 2017