Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus

Journal of the American Society of Nephrology

Volumn 13, Issue 9, 2002, Pages 2267-2277

  Marr, Nannette ^a   Bichet, Daniel G ^a   Hoefs, Susan ^a   Savelkoul, Paul J M ^a   Konings, Irene B M ^a   De Mattia, Fabrizio ^a   Graat, Michael P J ^a   Arthus, Marie Françoise ^a   Lonergan, Michele ^a   Fujiwara, T Mary ^a   Knoers, Nine V A M ^a   Landau, Daniel ^a   Balfe, William J ^a   Oksche, Alexander ^a   Rosenthal, Walter ^a   Müller, Dominik ^a   Van Os, Carel H ^a   Deen, Peter M T ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; CHAPERONE; AQP2 PROTEIN, HUMAN; AQUAPORIN; AQUAPORIN 6; WATER;

ALLELE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CYTOLOGY; ENDOPLASMIC RETICULUM; FEMALE; GENE DELETION; GENE FUNCTION; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; RNA SPLICING; WATER PERMEABILITY; AMINO ACID SEQUENCE; ANIMAL; CELL LINE; CELL MEMBRANE; CHEMISTRY; FAMILY HEALTH; GENETICS; METABOLISM; MOLECULAR GENETICS; NEWBORN; OOCYTE; PEDIGREE; PROTEIN TERTIARY STRUCTURE; RECESSIVE GENE; XENOPUS;

AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; AQUAPORIN 6; AQUAPORINS; CELL LINE; CELL MEMBRANE; DIABETES INSIPIDUS, NEPHROGENIC; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OOCYTES; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; WATER; XENOPUS;

EID: 0036707880     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000027355.41663.14     Document Type: Article

References (52)

1. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
2. Aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus
3. Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane
4. Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus
5. Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with Nephrogenic Diabetes Insipidus
6. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
7. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex
8. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
9. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus
10. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus
11. Novel pharmacologic therapies for cystic fibrosis
12. Trafficking of native and mutant mammalian MIP proteins
13. Folding of secretory and membrane proteins
14. Participation of the endoplasmic reticulum chaperone calnexin (p88, IP90) in the biogenesis of the cystic fibrosis transmembrane conductance regulator
15. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
16. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels
17. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
18. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response
19. Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: Evidence of disrupted water channel function
20. Two novel mutations in the vasopressin V2 receptor gene in patients
21. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis
22. Detection of aquaporin-2 in the plasma membranes of oocytes: A novel isolation method with improved yield and purity
23. Periodate-lysine-paraformaldehyde fixative. A new fixation for immunoelectron microscopy
24. Identification of two strains of MDCK cells which resemble separate nephron tubule segments
25. Apical and basolateral expression of Aquaporin-1 in transfected MDCK and LLC-PK cells and functional evaluation of their transcellular osmotic water permeabilities
26. Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane
27. Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus
28. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus
29. Aquaporin-2 transfection of Madin-Darby canine kidney cells reconstitutes vasopressin-regulated transcellular osmotic water transport
30. Erythrocyte Mr 28,000 transmembrane protein exists as a multisubunit oligomer similar to channel proteins
31. Tetrameric assembly of CHIP28 water channels in liposomes and cell membranes: A freeze-fracture study
32. Glycosylation is not essential for vasopressin-dependent routing of aquaporin-2 in transfected Madin-Darby canine kidney cells
33. Endocrinopathies in the family of endoplasmic reticulum (er) storage diseases: Disorders of protein trafficking and the role of er molecular chaperones
34. T cell receptor assembly and expression in the absence of calnexin
35. Increased degradation of newly synthesized interferon-gamma (IFN-gamma) in anti CD3-stimulated lymphocytes treated with glycoprotein processing inhibitors
36. Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
37. Information analysis of human splice site mutations
38. Multiple forms of deoxyribonucleic acid-dependent ribonucleic acid polymerase in Xenopus laevis. Levels of activity during oocyte and embryonic development
39. Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex
40. A study of the molecular pathology of sucrase-isomaltase deficiency. A defect in the intracellular processing of the enzyme
41. Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta(2)-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
42. The calcium receptor in health and disease
43. Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome
44. Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes
45. Independent trafficking of KATP channel subunits to the plasma membrane
46. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
47. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
48. Urinary content of aquaporin 1 and 2 in nephrogenic diabetes insipidus
49. Urinary excretion of aquaporin-2 in patients with diabetes insipidus
50. Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus
51. Novel AQP2 mutations as a cause of partially dDAVP-responsive post V2 receptor congenital nephrogenic diabetes insipidus (CNDI)
52. Twenty-one polymorphic markers from human chromosome 12 for integration of genetic and physical maps