Expression and Characterization of a PNPLA3 Protein Isoform (I148M) Associated with Nonalcoholic Fatty Liver Disease

por Huang, Yongcheng, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2011

Patatin-like phospholipase domain–containing protein 3 promotes transfers of essential fatty acids from triglycerides to phospholipids in hepatic lipid droplets

por Mitsche, Matthew A., Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2018

Dissociation Between APOC3 Variants, Hepatic Triglyceride Content and Insulin Resistance

por Kozlitina, Julia, Boerwinkle, Eric, Cohen, Jonathan C, Hobbs, Helen H
Publicado 2011

Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR

por Wang, Yan, Huang, Yongcheng, Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2012

The PNPLA3 variant associated with fatty liver disease (I148M) accumulates on lipid droplets by evading ubiquitylation

por BasuRay, Soumik, Smagris, Eriks, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2017

Contribution of a genetic risk score to ethnic differences in fatty liver disease

por Kubiliun, Maddie J., Cohen, Jonathan C., Hobbs, Helen H., Kozlitina, Julia
Publicado 2022

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

por Fahmi, Saleemah, Yang, Chendong, Esmail, Sophie, Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2008

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

por Rios, Jonathan, Stein, Evan, Shendure, Jay, Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2010

Increased thermogenesis by a noncanonical pathway in ANGPTL3/8-deficient mice

por Banfi, Serena, Gusarova, Viktoria, Gromada, Jesper, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2018

Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways

por Mitsche, Matthew A, McDonald, Jeffrey G, Hobbs, Helen H, Cohen, Jonathan C
Publicado 2015

Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins

por Smagris, Eriks, Gilyard, Shenise, BasuRay, Soumik, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2016

Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis

por BasuRay, Soumik, Wang, Yang, Smagris, Eriks, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2019

PNPLA3, CGI‐58, and Inhibition of Hepatic Triglyceride Hydrolysis in Mice

por Wang, Yang, Kory, Nora, BasuRay, Soumik, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2019

WholePathwayScope: a comprehensive pathway-based analysis tool for high-throughput data

por Yi, Ming, Horton, Jay D, Cohen, Jonathan C, Hobbs, Helen H, Stephens, Robert M
Publicado 2006

ANGPTL8 has both endocrine and autocrine effects on substrate utilization

por Oldoni, Federico, Cheng, Haili, Banfi, Serena, Gusarova, Viktoria, Cohen, Jonathan C., Hobbs, Helen H.
Publicado 2020

Genetic Variation in ANGPTL4 Provides Insights into Protein Processing and Function

por Yin, Wu, Romeo, Stefano, Chang, Shurong, Grishin, Nick V., Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2009

Relative roles of ABCG5/ABCG8 in liver and intestine

por Wang, Jin, Mitsche, Matthew A., Lütjohann, Dieter, Cohen, Jonathan C., Xie, Xiao-Song, Hobbs, Helen H.
Publicado 2015

Adiposity Amplifies the Genetic Risk of Fatty Liver Disease Conferred by Multiple Loci

por Stender, Stefan, Kozlitina, Julia, Nordestgaard, Børge G., Tybjærg-Hansen, Anne, Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2017

Variability of cholesterol accessibility in human red blood cells measured using a bacterial cholesterol-binding toxin

por Chakrabarti, Rima S, Ingham, Sally A, Kozlitina, Julia, Gay, Austin, Cohen, Jonathan C, Radhakrishnan, Arun, Hobbs, Helen H
Publicado 2017

Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease

por Luo, Fei, Xing, Chao, Asrani, Sumeet K., Li, Shili, Liang, Guosheng, Hobbs, Helen H., Cohen, Jonathan C.
Publicado 2021