Associated Papers
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
Bissonnette P et al.
Physiological Reports, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
El Tarazi A et al.
Scientific Reports, 2016
Structural Determinants of Oligomerization of the Aquaporin-4 Channel.
Kitchen P et al.
The Journal of Biological Chemistry, 2016
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
Protein trafficking defects in inherited kidney diseases.
Schaeffer C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A et al.
The Journal of Physiology, 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
Role of multiple phosphorylation sites in the COOH-terminal tail of aquaporin-2 for water transport: evidence against channel gating.
Moeller HB et al.
American Journal of Physiology. Renal Physiology, 2009
Hsp90 inhibitor partially corrects nephrogenic diabetes insipidus in a conditional knock-in mouse model of aquaporin-2 mutation.
Yang B et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Regulation of aquaporin-2 trafficking.
Nedvetsky PI et al.
Handbook of Experimental Pharmacology, 2009
Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.
Moon SS et al.
Endocrine Journal, 2009
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
T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
Tani Y et al.
Journal of Molecular and Cellular Cardiology, 2007
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
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
N-linked oligosaccharides as outfitters for glycoprotein folding, form and function.
Mitra N et al.
Trends in Biochemical Sciences, 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
Molecular biology of hereditary diabetes insipidus.
Fujiwara TM et al.
Journal of the American Society of Nephrology : Jasn, 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
Diabetes insipidus in mice with a mutation in aquaporin-2.
Lloyd DJ et al.
Plos Genetics, 2005
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
de Mattia F et al.
Human Molecular Genetics, 2004
Evidence for stabilization of aquaporin-2 folding mutants by N-linked glycosylation in endoplasmic reticulum.
Buck TM et al.
American Journal of Physiology. Cell Physiology, 2004
Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.
Hendriks G et al.
The Journal of Biological Chemistry, 2004
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
The Journal of Cell Biology, 2003
Molecular pathogenesis of nephrogenic diabetes insipidus.
Nguyen MK et al.
Clinical and Experimental Nephrology, 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
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
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
Detection of aquaporin-2 in the plasma membranes of oocytes: a novel isolation method with improved yield and purity.
Kamsteeg EJ et al.
Biochemical and Biophysical Research Communications, 2001
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus.
Marr N et al.
Pflugers Archiv : European Journal of Physiology, 2001
Pharmacological chaperones: a new twist on receptor folding.
Morello JP et al.
Trends in Pharmacological Sciences, 2000
The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.
Kamsteeg EJ et al.
The Journal of Cell Biology, 2000
Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
Kamsteeg EJ et al.
American Journal of Physiology. Renal Physiology, 2000
Routing of the aquaporin-2 water channel in health and disease.
Deen PM et al.
European Journal of Cell Biology, 2000
7th International Workshop on Developmental Nephrology 9-11 September 1998, Stockholm, Sweden. Early renal development: a key to the understanding of adult diseases.
Celsi G
Pediatric Nephrology (berlin, Germany), 2000
Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus.
Tamarappoo BK et al.
The Journal of Biological Chemistry, 1999
Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression.
Shinbo I et al.
The American Journal of Physiology, 1999