Associated Papers
Transcriptional regulatory factors of the Aqp2 gene.
Jung HJ et al.
Kidney Research and Clinical Practice, 2025
A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus.
Hinrichs GR et al.
Kidney International Reports, 2022
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C et al.
Cells, 2020
GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
Bichet DG
European Journal of Endocrinology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The degradation pathway of a model misfolded protein is determined by aggregation propensity.
Sun Z et al.
Molecular Biology of the Cell, 2018
Structural Basis for Mutations of Human Aquaporins Associated to Genetic Diseases.
Calvanese L et al.
International Journal of Molecular Sciences, 2018
Genetics of Diabetes Insipidus.
Schernthaner-Reiter MH et al.
Endocrinology and Metabolism Clinics of North America, 2017
The Trafficking of the Water Channel Aquaporin-2 in Renal Principal Cells-a Potential Target for Pharmacological Intervention in Cardiovascular Diseases.
Vukićević T et al.
Frontiers in Pharmacology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
[Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].
Morin D
Nephrologie & Therapeutique, 2014
Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.
Moeller HB et al.
Endocrine Reviews, 2013
Congenital nephrogenic diabetes insipidus: the current state of affairs.
Wesche D et al.
Pediatric Nephrology (berlin, Germany), 2012
Vasopressin increases S261 phosphorylation in AQP2-P262L, a mutant in recessive nephrogenic diabetes insipidus.
Trimpert C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2012
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Familial forms of diabetes insipidus: clinical and molecular characteristics.
Babey M et al.
Nature Reviews. Endocrinology, 2011
Regulation of the water channel aquaporin-2 by posttranslational modification.
Moeller HB et al.
American Journal of Physiology. Renal Physiology, 2011
Regulation of AQP2 localization by S256 and S261 phosphorylation and ubiquitination.
Tamma G et al.
American Journal of Physiology. Cell Physiology, 2011
Aquaporins in kidney pathophysiology.
Noda Y et al.
Nature Reviews. Nephrology, 2010
p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
Savelkoul PJ et al.
Human Mutation, 2009
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis.
Chang YH et al.
Kidney International, 2009
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
Human Mutation, 2009
LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation.
van Balkom BW et al.
Journal of the American Society of Nephrology : Jasn, 2009
Regulation of aquaporin-2 trafficking.
Nedvetsky PI et al.
Handbook of Experimental Pharmacology, 2009
Vasopressin-stimulated increase in phosphorylation at Ser269 potentiates plasma membrane retention of aquaporin-2.
Hoffert JD et al.
The Journal of Biological Chemistry, 2008
Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.
Sorani MD et al.
Human Mutation, 2008
Aquaporin 2 mutations in nephrogenic diabetes insipidus.
Loonen AJ et al.
Seminars in Nephrology, 2008
Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.
Kamsteeg EJ et al.
Pflugers Archiv : European Journal of Physiology, 2008
Ubiquitylation-independent ER-associated degradation of an AE1 mutant associated with dominant hereditary spherocytosis in cattle.
Ito D et al.
Journal of Cell Science, 2006
Regulation of aquaporin-2 trafficking and its binding protein complex.
Noda Y et al.
Biochimica Et Biophysica Acta, 2006
Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.
Robben JH et al.
American Journal of Physiology. Renal Physiology, 2006
Loss of calcineurin Aalpha results in altered trafficking of AQP2 and in nephrogenic diabetes insipidus.
Gooch JL et al.
Journal of Cell Science, 2006
[Nephrogenic diabetes insipidus: Pathogenesis, pathophysiology, and therapy].
Ota E et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.
Cheong HI et al.
Journal of Korean Medical Science, 2005
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
de Mattia F et al.
Journal of the American Society of Nephrology : Jasn, 2005
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
The Journal of Cell Biology, 2003
Ser-256 phosphorylation dynamics of Aquaporin 2 during maturation from the ER to the vesicular compartment in renal cells.
Procino G et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2003
Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations.
Asai T et al.
Kidney International, 2003
The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus.
Hirano K et al.
The American Journal of Pathology, 2003
Molecular pathogenesis of nephrogenic diabetes insipidus.
Nguyen MK et al.
Clinical and Experimental Nephrology, 2003
Hypertonicity is involved in redirecting the aquaporin-2 water channel into the basolateral, instead of the apical, plasma membrane of renal epithelial cells.
van Balkom BW et al.
The Journal of Biological Chemistry, 2003
Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N et al.
Journal of the American Society of Nephrology : Jasn, 2002
Altered trafficking and epithelial cell polarity in disease.
Stein M et al.
Trends in Cell Biology, 2002
Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.
Lin SH et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[Congenital nephrogenic diabetes insipidus].
Morin D
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2002
Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Marr N et al.
Human Molecular Genetics, 2002