Mariateresa Lena

机构：Neurosciences Institute, Istituto Giannina Gaslini, Center for Neurosciences, Istituti di Ricovero e Cura a Carattere Scientifico, University of Genoa

发表论文 11 篇 · 总被引 133 次 · h-index 6

代表论文

• The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs (2022 · International Journal of Molecular Sciences · 被引 55)
• 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)
• 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)
• De novo variants in DENND5B cause a neurodevelopmental disorder (2024 · The American Journal of Human Genetics · 被引 9)
• Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR (2025 · Frontiers in Pharmacology · 被引 8)
• Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators (2024 · Frontiers in Pharmacology · 被引 6)