News ERC Starting Grant awarded to Jeroen de Baaij 17 Mar 20229 Jan 2023 Jeroen de Baaij, kidney researcher the Radboudumc, receives an ERC Starting Grant worth 1.5 million euros. He will use this grant to improve the diagnosis and treatment of severe magnesium…
Publications Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA 9 Feb 20229 Jan 2023 Background: Gitelman syndrome is the most frequent hereditary salt-losing tubulopathy characterized by hypokalemic alkalosis and hypomagnesemia. Gitelman syndrome is caused by biallelic pathogenic variants in SLC12A3, encoding the Na+-Cl- cotransporter (NCC) expressed in the…
Publications mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy 4 Oct 20219 Jan 2023 Background: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, approximately 20% of all patients with…
Publications Serum Magnesium Is Inversely Associated With Heart Failure, Atrial Fibrillation, and Microvascular Complications in Type 2 Diabetes 18 Jun 20219 Jan 2023 Objective: We investigated whether serum magnesium (Mg2+) was prospectively associated with macro- or microvascular complications and mediated by glycemic control (hemoglobin A1c [HbA1c]), in type 2 diabetes (T2D). Research design and methods: We…
Publications ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs 5 Jun 202110 Jan 2023 Cyclin M (CNNM1-4) proteins maintain cellular and body magnesium (Mg2+) homeostasis. Using various biochemical approaches, we have identified members of the CNNM family as direct interacting partners of ADP-ribosylation factor-like…
Publications Genetic and drug-induced hypomagnesemia: different cause, same mechanism 21 Apr 202110 Jan 2023 Magnesium (Mg2+) plays an essential role in many biological processes. Mg2+ deficiency is therefore associated with a wide range of clinical effects including muscle cramps, fatigue, seizures and arrhythmias. To maintain…