Associated Papers
Transcriptional regulatory factors of the Aqp2 gene.
Jung HJ et al.
Kidney Research and Clinical Practice, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Structural and functional analysis of aquaporin-2 mutants involved in nephrogenic diabetes insipidus.
Hagströmer CJ et al.
Scientific Reports, 2023
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
Novel AQP2 Mutations and Clinical Characteristics in Seven Chinese Families With Congenital Nephrogenic Diabetes Insipidus.
Li Q et al.
Frontiers in Endocrinology, 2021
Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.
Li Q et al.
Frontiers in Endocrinology, 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
Long-term outcome in inherited nephrogenic diabetes insipidus.
Sharma S et al.
Clinical Kidney Journal, 2019
Aquaporins in Renal Diseases.
He J et al.
International Journal of Molecular Sciences, 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
Hereditary Nephrogenic Diabetes Insipidus: Pathophysiology and Possible Treatment. An Update.
Milano S et al.
International Journal of Molecular Sciences, 2017
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
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
The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog.
Klein N et al.
Febs Open Bio, 2015
X-ray structure of human aquaporin 2 and its implications for nephrogenic diabetes insipidus and trafficking.
Frick A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy.
Rugpolmuang R et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.
Nomura N et al.
Biochemical and Biophysical Research Communications, 2013
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
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.
Bichet DG et al.
Clinical Kidney Journal, 2012
Congenital nephrogenic diabetes insipidus: what can we learn from mouse models?
Boone M et al.
Experimental 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
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
Nephrogenic diabetes insipidus in mice caused by deleting COOH-terminal tail of aquaporin-2.
Shi PP et al.
American Journal of Physiology. Renal Physiology, 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
Mouse model of inducible nephrogenic diabetes insipidus produced by floxed aquaporin-2 gene deletion.
Yang B et al.
American Journal of Physiology. Renal Physiology, 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
Endomannosidase processes oligosaccharides of alpha1-antitrypsin and its naturally occurring genetic variants in the Golgi apparatus.
Torossi T et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Roles of aquaporins in kidney revealed by transgenic mice.
Verkman AS
Seminars in Nephrology, 2006
N-linked oligosaccharides as outfitters for glycoprotein folding, form and function.
Mitra N et al.
Trends in Biochemical Sciences, 2006
Diabetes insipidus in mice with a mutation in aquaporin-2.
Lloyd DJ et al.
Plos Genetics, 2005
Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation.
Koenderink JB et al.
Biochimica Et Biophysica Acta, 2005
Novel roles of aquaporins revealed by phenotype analysis of knockout mice.
Verkman AS
Reviews of Physiology, Biochemistry and Pharmacology, 2005
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
Water channel aquaporin-2 directly binds to actin.
Noda Y et al.
Biochemical and Biophysical Research Communications, 2004
Aquaporin-2 trafficking is regulated by PDZ-domain containing protein SPA-1.
Noda Y et al.
Febs Letters, 2004
Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.
Boccalandro C et al.
Journal of the American Society of Nephrology : Jasn, 2004
A missense mutation (G1506E) in the adhesion G domain of laminin-5 causes mild junctional epidermolysis bullosa.
Scaturro M et al.
Biochemical and Biophysical Research Communications, 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
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