Abstract
Hereditary primary hypomagnesemia comprises a clinically and genetically heterogeneous group of disorders in which hypomagnesemia is due to either renal or intestinal Mg(2+) wasting. These disorders share the general symptoms of hypomagnesemia, tetany and epileptiformic convulsions, and often include secondary or associated disturbances in calcium excretion. In a large Dutch family with autosomal dominant renal hypomagnesemia, associated with hypocalciuria, we mapped the disease locus to a 5.6-cM region on chromosome 11q23. After candidate screening, we identified a heterozygous mutation in the FXYD2 gene, encoding the Na(+),K(+)-ATPase gamma-subunit, cosegregating with the patients of this family, which was not found in 132 control chromosomes. The mutation leads to a G41R substitution, introducing a charged amino acid residue in the predicted transmembrane region of the gamma-subunit protein. Expression studies in insect Sf9 and COS-1 cells showed that the mutant gamma-subunit protein was incorrectly routed and accumulated in perinuclear structures. In addition to disturbed routing of the G41R mutant, Western blot analysis of Xenopus oocytes expressing wild-type or mutant gamma-subunit showed mutant gamma-subunit lacking a po...Continue Reading
References
Aug 22, 1978·Biochemistry·B ForbushJ F Hoffman
May 1, 1987·Kidney International·W B GevenB G ter Haar
Oct 1, 1983·European Journal of Pediatrics·T J FiselierP Peer
Apr 1, 1994·Physiological Reviews·C de Rouffignac, G Quamme
May 1, 1993·The Journal of Cell Biology·R W MercerB Forbush
Jul 16, 1997·The EMBO Journal·P BéguinK Geering
Nov 14, 1997·Kidney International·G A Quamme
Jan 24, 1998·The Journal of Biological Chemistry·A G TherienR Blostein
Oct 24, 1998·The Journal of Biological Chemistry·P J SchultheisG E Shull
Jan 23, 1999·American Journal of Human Genetics·I C MeijN V Knoers
Apr 23, 1999·The Journal of Biological Chemistry·A G TherienR Blostein
Jul 15, 1999·Journal of the American Society of Nephrology : JASN·Z S Agus
Nov 24, 1999·The Journal of Biological Chemistry·E ArystarkhovaK J Sweadner
Aug 3, 2000·Frontiers in Bioscience : a Journal and Virtual Library·G A Quamme, C de Rouffignac
Nov 4, 2000·Nature Genetics·I C MeijN V Knoers
Jan 12, 2001·Physiological Reviews·L J DaiG A Quamme
Mar 30, 2001·The Journal of Biological Chemistry·H X PuR Blostein
Aug 15, 2001·American Journal of Physiology. Renal Physiology·R K Wetzel, K J Sweadner
Jan 5, 2002·The Journal of Biological Chemistry·Elena ArystarkhovaKathleen J Sweadner
Feb 8, 2002·American Journal of Physiology. Renal Physiology·Elena ArystarkhovaKathleen J Sweadner
Apr 4, 2002·The Journal of Biological Chemistry·Helen X PuRhoda Blostein
Sep 10, 2002·American Journal of Physiology. Renal Physiology·Haim GartySteven J D Karlish
Citations
Oct 25, 2008·Pflügers Archiv : European journal of physiology·Qi XiRené J M Bindels
Jan 12, 2011·Pflügers Archiv : European journal of physiology·Sascha BandulikMarkus Reichold
Sep 27, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Nine V A M Knoers
Jan 30, 2008·Nature Clinical Practice. Nephrology·Amir Said Alizadeh Naderi, Robert F Reilly
Aug 3, 2007·The Journal of Clinical Investigation·Wouter M Tiel GroenestegeRené J Bindels
Mar 25, 2009·BMC Genomics·Kirsti Laurila, Mauno Vihinen
Dec 11, 2013·BMC Research Notes·Asma DeebJohn A Sayer
May 18, 2007·Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine·Itsuro Endo, Toshio Matsumoto
Oct 30, 2009·The Journal of Membrane Biology·Edinio R CairoJan B Koenderink
Apr 4, 2006·Advances in Chronic Kidney Disease·Stéphanie ThébaultRené J M Bindels
Dec 4, 2012·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Henrik DimkeRené J M Bindels
Aug 16, 2011·Journal of Intensive Care Medicine·Andrea Kelly, Michael A Levine
Oct 23, 2009·Headache·Michael G HarringtonRoger G Biringer
May 14, 2008·Expert Opinion on Pharmacotherapy·Bruno VincenziGiuseppe Tonini
Jun 20, 2019·Physiological Reviews·Jenny van der WijstOlivier Devuyst
Jun 7, 2014·Current Opinion in Nephrology and Hypertension·Jenny van der WijstJoost G J Hoenderop
May 25, 2016·Current Opinion in Nephrology and Hypertension·Zalman S Agus
Mar 10, 2005·The Journal of Biological Chemistry·D Holstead JonesGerald M Kidder
Mar 11, 2021·The Journal of General Physiology·John Q YapSeth L Robia
Jul 8, 2021·American Journal of Physiology. Cell Physiology·Elisa D BiondoPablo Artigas
Oct 9, 2009·Kidney International·Bob GlaudemansRené J M Bindels