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 no Hepatology (2017)

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 no J Biol Chem (2016)

Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis

Por Smagris, Eriks, BasuRay, Soumik, Li, John, Huang, Yongcheng, Lai, Ka-man V, Gromada, Jesper, Cohen, Jonathan C, Hobbs, Helen H
Publicado no Hepatology (2015)

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

Por Kozlitina, Julia, Smagris, Eriks, Stender, Stefan, Nordestgaard, Børge G., Zhou, Heather H., Tybjærg-Hansen, Anne, Vogt, Thomas F., Hobbs, Helen H., Cohen, Jonathan C.
Publicado em 2014