[HTML][HTML] Lipid droplet biogenesis and functions in health and disease

A Zadoorian, X Du, H Yang - Nature Reviews Endocrinology, 2023 - nature.com
Ubiquitous yet unique, lipid droplets are intracellular organelles that are increasingly being
recognized for their versatility beyond energy storage. Advances uncovering the intricacies …

[HTML][HTML] Using genetic association data to guide drug discovery and development: review of methods and applications

S Burgess, AM Mason, AJ Grant, EAW Slob… - The American Journal of …, 2023 - cell.com
Evidence on the validity of drug targets from randomized trials is reliable but typically
expensive and slow to obtain. In contrast, evidence from conventional observational …

AASLD Practice Guidance on the clinical assessment and management of nonalcoholic fatty liver disease

ME Rinella, BA Neuschwander-Tetri, MS Siddiqui… - Hepatology, 2023 - journals.lww.com
Abbreviations: AASLD, American Association for the Study of Liver Diseases; AI, artificial
intelligence; ALT, alanine aminotransferase; AST, aspartate aminotransferase; AUROC …

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

S Zhou, OA Sosina, J Bovijn, L Laurent, V Sharma… - Nature Genetics, 2023 - nature.com
In this study, we leveraged the combined evidence of rare coding variants and common
alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale …

Found in translation—Fibrosis in metabolic dysfunction–associated steatohepatitis (MASH)

S Wang, SL Friedman - Science translational medicine, 2023 - science.org
Metabolic dysfunction–associated steatohepatitis (MASH) is a severe form of liver disease
that poses a global health threat because of its potential to progress to advanced fibrosis …

[HTML][HTML] Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

P Akbari, OA Sosina, J Bovijn, K Landheer… - Nature …, 2022 - nature.com
Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent
of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non …

[HTML][HTML] Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis

J Ghouse, G Sveinbjörnsson, M Vujkovic, AS Seidelin… - Nature Genetics, 2024 - nature.com
We report a multi-ancestry genome-wide association study on liver cirrhosis and its
associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase …

Therapeutic opportunities for the treatment of NASH with genetically validated targets

D Lindén, S Romeo - Journal of Hepatology, 2023 - Elsevier
The identification of genetic variants associated with fatty liver disease (FLD) from genome-
wide association studies started in 2008 when single nucleotide polymorphisms in PNPLA3 …

A phase I/II study of ARO-HSD, an RNA interference therapeutic, for the treatment of non-alcoholic steatohepatitis

LY Mak, E Gane, C Schwabe, KT Yoon, J Heo… - Journal of …, 2023 - Elsevier
Background & Aims Loss-of-function HSD17β13 mutations protect against the development
of chronic liver disease. HSD17β13 inhibition represents a potential approach to treat liver …

[HTML][HTML] Rare coding variants in CHRNB2 reduce the likelihood of smoking

VM Rajagopal, K Watanabe, J Mbatchou, A Ayer… - Nature Genetics, 2023 - nature.com
Human genetic studies of smoking behavior have been thus far largely limited to common
variants. Studying rare coding variants has the potential to identify drug targets. We …