Helen H. Hobbs

Research interests

Publications

• A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

  New England Journal of Medicine · 2018 · https://doi.org/10.1056/nejmoa1712191

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

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.2901

• Human Fatty Liver Disease: Old Questions and New Insights

  Science · 2011 · https://doi.org/10.1126/science.1204265

• Exome Sequencing, ANGPTL3 Mutations, and Familial Combined Hypolipidemia

  New England Journal of Medicine · 2010 · https://doi.org/10.1056/nejmoa1002926

• Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.257

• PCSK9: a convertase that coordinates LDL catabolism

  Journal of Lipid Research · 2008 · 10.1194/jlr.r800091-jlr200

• A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

  Science · 2007 · 10.1126/science.1142447

• Molecular biology of PCSK9: its role in LDL metabolism

  Trends in Biochemical Sciences · 2007 · 10.1016/j.tibs.2006.12.008

• Binding of Proprotein Convertase Subtilisin/Kexin Type 9 to Epidermal Growth Factor-like Repeat A of Low Density Lipoprotein Receptor Decreases Receptor Recycling and Increases Degradation

  Journal of Biological Chemistry · 2007 · 10.1074/jbc.m702027200

• Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease

  New England Journal of Medicine · 2006 · 10.1056/nejmoa054013

• Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

  The American Journal of Human Genetics · 2006 · 10.1086/507488

• Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

  Nature Genetics · 2005 · 10.1038/ng1509

• Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population

  American Journal of Physiology-Endocrinology and Metabolism · 2004 · 10.1152/ajpendo.00064.2004

• Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

  Science · 2004 · 10.1126/science.1099870

• Prevalence of Hepatic Steatosis in An Urban Population in the United States: Impact of Ethnicity

  Hepatology · 2004 · 10.1002/hep.20466

• Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol

  Journal of Clinical Investigation · 2002 · 10.1172/jci16001

• Regulation of ATP-binding Cassette Sterol Transporters ABCG5 and ABCG8 by the Liver X Receptors α and β

  Journal of Biological Chemistry · 2002 · 10.1074/jbc.m109927200

• Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion

  Proceedings of the National Academy of Sciences · 2002 · 10.1073/pnas.252582399

• Autosomal Recessive Hypercholesterolemia Caused by Mutations in a Putative LDL Receptor Adaptor Protein

  Science · 2001 · 10.1126/science.1060458

• High-density lipoprotein binding to scavenger receptor-BI activates endothelial nitric oxide synthase

  Nature Medicine · 2001 · 10.1038/89986

• Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters

  Science · 2000 · 10.1126/science.290.5497.1771

• Identification of Scavenger Receptor SR-BI as a High Density Lipoprotein Receptor

  Science · 1996 · 10.1126/science.271.5248.518

• Apolipoprotein(a) gene accounts for greater than 90% of the variation in plasma lipoprotein(a) concentrations.

  Journal of Clinical Investigation · 1992 · 10.1172/jci115855

• Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

  Human Mutation · 1992 · 10.1002/humu.1380010602

• THE LDL RECEPTOR LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA: Mutational Analysis of a Membrane Protein

  Annual Review of Genetics · 1990 · 10.1146/annurev.ge.24.120190.001025

Current projects

No projects listed.