Gérald Le Gac

The paper investigates how glycerophospholipids influence SLC40A1 conformational changes and identifies key residues linked to ferroportin disease.

The paper combines full-length gene splicing assay and SpliceAI to analyze splicing effects of SPINK1 coding variants, finding less than 2% of variants significantly impact splicing.

This study shows cholesterol modulates FPN1 iron export function by affecting its localization in plasma membrane microdomains and sensitivity to hepcidin.

The paper proposes a new variant classification framework for chronic pancreatitis, introducing new categories to better classify variants in disease-causing and predisposing genes.

The paper estimates that 15-18% of canonical GT 5' splice sites can generate wild-type transcripts when mutated to GC, with implications for disease and splicing mechanisms.