Zobrazeno 1 - 10
of 195
pro vyhledávání: '"Gary A Silverman"'
Autor:
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, Vittoria C Rossi, Ava S Berrier, Anika Lindsey, Jacob Lesinski, Michael L Nonet, Jian Chen, Dustin Baldridge, Gary A Silverman, V Reid Sutton, Jill A Rosenfeld, Alyssa A Tran, M John Hicks, David R Murdock, Hongzheng Dai, MaryAnn Weis, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, Richard Caswell, Carrie Pottinger, Deirdre Cilliers, Karen Stals, Undiagnosed Diseases Network, David Eyre, Deborah Krakow, Tim Schedl, Stephen C Pak, Brendan H Lee
Publikováno v:
PLoS Genetics, Vol 19, Iss 11, p e1011005 (2023)
BackgroundKinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo
Externí odkaz:
https://doaj.org/article/d6d02fb43ddb4cad86147275323bfe06
Autor:
Yan Wang, Murat C Cobanoglu, Jie Li, Tunda Hidvegi, Pamela Hale, Michael Ewing, Andrew S Chu, Zhenwei Gong, Radhika Muzumdar, Stephen C Pak, Gary A Silverman, Ivet Bahar, David H Perlmutter
Publikováno v:
PLoS ONE, Vol 14, Iss 1, p e0209748 (2019)
The classical form of α1-antitrypsin deficiency (ATD) is characterized by intracellular accumulation of the misfolded variant α1-antitrypsin Z (ATZ) and severe liver disease in some of the affected individuals. In this study, we investigated the po
Externí odkaz:
https://doaj.org/article/15ce59d7c3b44813913242c9f529345a
Autor:
Brian J Thomas, Ira E Wight, Wendy Y Y Chou, Marco Moreno, Zachary Dawson, Arielle Homayouni, Huiyan Huang, Hyori Kim, Hanna Jia, Justin R Buland, Jennifer A Wambach, F Sessions Cole, Stephen C Pak, Gary A Silverman, Cliff J Luke
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0214257 (2019)
Due to its ease of genetic manipulation and transparency, Caenorhabditis elegans (C. elegans) has become a preferred model system to study gene function by microscopy. The use of Aequorea victoria green fluorescent protein (GFP) fused to proteins or
Externí odkaz:
https://doaj.org/article/b1b2d5d0e21c47848291295efb0f9914
Autor:
Erin E Cummings, Linda P O'Reilly, Dale E King, Richard M Silverman, Mark T Miedel, Cliff J Luke, David H Perlmutter, Gary A Silverman, Stephen C Pak
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141542 (2015)
α1-antitrypsin deficiency (ATD) predisposes patients to both loss-of-function (emphysema) and gain-of-function (liver cirrhosis) phenotypes depending on the type of mutation. Although the Z mutation (ATZ) is the most prevalent cause of ATD, >120 mut
Externí odkaz:
https://doaj.org/article/d896cccbc3b349e0bf07f1e5d843ffba
Autor:
Jie Li, Stephen C Pak, Linda P O'Reilly, Joshua A Benson, Yan Wang, Tunda Hidvegi, Pamela Hale, Christine Dippold, Michael Ewing, Gary A Silverman, David H Perlmutter
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e87260 (2014)
The classical form of α1-antitrypsin deficiency (ATD) is associated with hepatic fibrosis and hepatocellular carcinoma. It is caused by the proteotoxic effect of a mutant secretory protein that aberrantly accumulates in the endoplasmic reticulum of
Externí odkaz:
https://doaj.org/article/c378e72431a64ece8d6c33c6f47ce71c
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75869 (2013)
In the nervous system of mice, small conductance calcium-activated potassium (SK) channels function to regulate neuronal excitability through the generation of a component of the medium afterhyperpolarization that follows action potentials. In humans
Externí odkaz:
https://doaj.org/article/9ec43bcf299d4dbe871579265054e2dd
Autor:
Mark T Miedel, Nathan J Graf, Kate E Stephen, Olivia S Long, Stephen C Pak, David H Perlmutter, Gary A Silverman, Cliff J Luke
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e40145 (2012)
Endoplasmic-reticulum associated degradation (ERAD) is a major cellular misfolded protein disposal pathway that is well conserved from yeast to mammals. In yeast, a mutant of carboxypeptidase Y (CPY*) was found to be a luminal ER substrate and has se
Externí odkaz:
https://doaj.org/article/b277c57644ed4e9abc486f94a5552bea
Autor:
Sager J Gosai, Joon Hyeok Kwak, Cliff J Luke, Olivia S Long, Dale E King, Kevin J Kovatch, Paul A Johnston, Tong Ying Shun, John S Lazo, David H Perlmutter, Gary A Silverman, Stephen C Pak
Publikováno v:
PLoS ONE, Vol 5, Iss 11, p e15460 (2010)
The development of preclinical models amenable to live animal bioactive compound screening is an attractive approach to discovering effective pharmacological therapies for disorders caused by misfolded and aggregation-prone proteins. In general, howe
Externí odkaz:
https://doaj.org/article/84a23b8725da453282e732e846ecd8d0
Autor:
Young Mi Oh, Seong Won Lee, Woo Kyung Kim, Shawei Chen, Victoria A. Church, Kitra Cates, Tiandao Li, Bo Zhang, Roland E. Dolle, Sonika Dahiya, Stephen C. Pak, Gary A. Silverman, David H. Perlmutter, Andrew S. Yoo
Publikováno v:
Nature Neuroscience. 25:1420-1433
Autor:
Gary A Silverman, David A Lomas
Serpins constitute a superfamily of proteins that possess a unique tertiary structure and mechanism of proteinase inhibition. In humans, serpins constitute 10% of the plasma proteins and are best known as critical regulators of both the thrombotic an