Antoine Rimbert

LIPC-E97G Gain-of-function variant potentiates the hypocholesterolemic and anti-atherogenic effects of evinacumab in Ldlr-/- mice

This study shows that the LIPC-E97G variant enhances the cholesterol-lowering and anti-atherogenic effects of evinacumab in Ldlr-/- mice.

Sirtuin 1 modulation unlocks the therapeutic potential of sodium-glucose co-transporter 2 inhibitors (SGLT2i) in calcific aortic valve stenosis

This study shows SIRT1 regulates calcific aortic valve stenosis progression and that SGLT2i may slow valve degeneration by modulating SIRT1.

The COPI coatomer influences LDL receptor activity, hepatic lipid storage, and apoB secretion

This study identifies COPI coatomer subunits that regulate LDL receptor activity, apoB secretion, and hepatic lipid storage, with genetic variants linked to elevated LDL-C levels.

Comparative Transcriptomic Analysis of Obesity and Lipodystrophy Reveals Shared Mechanisms and Novel Targets in Adipose Tissue Dysfunction

This study identifies a shared molecular signature in adipose tissue dysfunction across obesity and lipodystrophy, revealing common metabolic pathways and genetic loci associated with type 2 diabetes.

KILDA: identifying KIV-2 repeats from kmers

KILDA identifies KIV-2 repeats and Lp(a)-affecting variants from kmers, achieving results comparable to DRAGEN-LPA on the 1000 Genomes Project.

Hepatic retromer is essential for systemic cholesterol homeostasis by regulating lysosomal cholesterol metabolism

This study shows that hepatic VPS35 deficiency disrupts lysosomal cholesterol metabolism, leading to increased cholesterol levels in plasma and liver.

A novel Mendelian randomization method identifies causal relationships between gene expression and low-density lipoprotein cholesterol levels.

This paper introduces MR-link, a Mendelian randomization method that identifies causal relationships between gene expression and LDL-C levels, finding 19 causally linked genes including PVRL2.