Publications Structural and functional comparison of magnesium transporters throughout evolution 12 Jul 202210 Jan 2023 Magnesium (Mg2+) is the most prevalent divalent intracellular cation. As co-factor in many enzymatic reactions, Mg2+ is essential for protein synthesis, energy production, and DNA stability. Disturbances in intracellular Mg2+ concentrations, therefore,…
Publications Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification 7 Jul 202210 Jan 2023 Introduction Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic…
Publications FAM111A is dispensable for electrolyte homeostasis in mice 17 Jun 202210 Jan 2023 Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have…
Publications Mechanisms of proton pump inhibitor-induced hypomagnesemia 2 Jun 202210 Jan 2023 Proton pump inhibitors (PPIs) reliably suppress gastric acid secretion and are therefore the first-line treatment for gastric acid-related disorders. Hypomagnesemia (serum magnesium [Mg2+] <0.7 mmol/L) is a commonly reported side effect of…
Publications Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters 13 May 202210 Jan 2023 Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor essential for the development and function of the kidney. Mutations in and deletions of HNF1β cause autosomal dominant tubule interstitial kidney…
Publications The association between hypomagnesemia and poor glycaemic control in type 1 diabetes is limited to insulin resistant individuals 19 Apr 202210 Jan 2023 In a cohort of adults with type 1 diabetes, we examined the prevalence of hypomagnesemia and the correlation of serum magnesium levels with metabolic determinants, such as glycaemic control (as…
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…
Kidney Physiology 