Valeria Tomati

机构：Istituto Giannina Gaslini, Istituti di Ricovero e Cura a Carattere Scientifico · ORCID：0000-0003-3761-1916

发表论文 61 篇 · 总被引 1472 次 · h-index 24

代表论文

• Rescue by elexacaftor-tezacaftor-ivacaftor of the G1244E cystic fibrosis mutation's stability and gating defects are dependent on cell background (2022 · Journal of Cystic Fibrosis · 被引 29)
• Innovative Strategy toward Mutant CFTR Rescue in Cystic Fibrosis: Design and Synthesis of Thiadiazole Inhibitors of the E3 Ligase RNF5 (2023 · Journal of Medicinal Chemistry · 被引 18)
• Tezacaftor is a direct inhibitor of sphingolipid delta-4 desaturase enzyme (DEGS) (2024 · Journal of Cystic Fibrosis · 被引 13)
• Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators (2023 · International Journal of Molecular Sciences · 被引 13)
• The combination elexacaftor/tezacaftor/ivacaftor (ETI) modulates the de novo synthethic pathway of ceramides in a genotype-independent manner (2023 · Journal of Cystic Fibrosis · 被引 10)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)