Nadia Frachon

机构：Centre National de la Recherche Scientifique, Inserm, Université Paris Cité, Sorbonne Université, Centre de Recherche des Cordeliers, Metabolism and Renal Physiology · ORCID：0009-0008-1376-863X

发表论文 21 篇 · 总被引 119 次 · h-index 6

代表论文

• Defective bicarbonate reabsorption in Kir4.2 potassium channel deficient mice impairs acid-base balance and ammonia excretion (2019 · Kidney International · 被引 43)
• A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification (2018 · Human Mutation · 被引 25)
• Golgi Alpha1,2-Mannosidase IA Promotes Efficient Endoplasmic Reticulum-Associated Degradation of NKCC2 (2021 · Cells · 被引 8)
• New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1 (2021 · Human Mutation · 被引 8)
• Analysis of CLCNKB mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome (2019 · Human Mutation · 被引 8)
• A novel transgenic mouse model highlights molecular disruptions involved in the pathogenesis of Dent disease 1 (2024 · Gene · 被引 6)