Zobrazeno 1 - 10
of 75
pro vyhledávání: '"Stephen C Pak"'
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:
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan, Anika Lindsey, Omar Itani, Amber L. Böhme, Debora Tibbe, Hans-Hinrich Hönck, Fatemeh Hassani Nia, Undiagnosed Diseases Network, Michael Zech, Theresa Brunet, Laurence Faivre, Arthur Sorlin, Antonio Vitobello, Thomas Smol, Cindy Colson, Kristin Baranano, Krista Schatz, Allan Bayat, Kelly Schoch, Rebecca Spillmann, Erica E. Davis, Erin Conboy, Francesco Vetrini, Konrad Platzer, Sonja Neuser, Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell, Alexander Stegmann, Margje Sinnema, Naomi Meeks, Carol Saunders, Maxime Cadieux-Dion, Juliane Hoyer, Julien Van-Gils, Jean-Madeleine de Sainte-Agathe, Michelle L. Thompson, E. Martina Bebin, Monika Weisz-Hubshman, Anne-Claude Tabet, Alain Verloes, Jonathan Levy, Xenia Latypova, Sönke Harder, Gary A. Silverman, Stephen C. Pak, Tim Schedl, Kathleen Freson, Andrew Mumford, Ernest Turro, Christian Schlein, Vandana Shashi, Hans-Jürgen Kreienkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Members of the leucine rich repeat (LRR) and PDZ domain (LAP) protein family are essential for animal development and histogenesis. Densin-180, encoded by LRRC7, is the only LAP protein selectively expressed in neurons. Densin-180 is a posts
Externí odkaz:
https://doaj.org/article/fa7e561bde0647a3a38569265135f1c2
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:
Zachary D. Dawson, Hemalatha Sundaramoorthi, Suk Regmi, Bo Zhang, Stephanie Morrison, Sara M. Fielder, Jessie R. Zhang, Hieu Hoang, David H. Perlmutter, Cliff J. Luke, Gary A. Silverman, Stephen C. Pak
Publikováno v:
Autophagy Reports, Vol 3, Iss 1 (2024)
Autophagy is important for many physiological processes; and disordered autophagy can contribute to the pathogenesis of a broad range of systemic disorders. C. elegans is a useful model organism for studying the genetics of autophagy, however, curren
Externí odkaz:
https://doaj.org/article/50031cc4024141b38ff18745781f19c2
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
Autor:
Jie Li, Francesca Moretti, Tunda Hidvegi, Sanja Sviben, James A.J. Fitzpatrick, Hemalatha Sundaramoorthi, Stephen C. Pak, Gary A. Silverman, Britta Knapp, Ireos Filipuzzi, John Alford, John Reece-Hoyes, Florian Nigsch, Leon O. Murphy, Beat Nyfeler, David H. Perlmutter
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 17, Iss 6, Pp 1007-1024 (2024)
Background & Aims: In the classic form of α1-antitrypsin deficiency (ATD), the misfolded α1-antitrypsin Z (ATZ) variant accumulates in the endoplasmic reticulum (ER) of liver cells. A gain-of-function proteotoxic mechanism is responsible for chroni
Externí odkaz:
https://doaj.org/article/732b690fbbd84589915ab3fbdd2ec291
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