Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus

Amara, 1992, Intracellular protein trafficking defects in human disease, Trends Cell Biol, 2, 145, 10.1016/0962-8924(92)90101-R Arthus, 2000, Report of novel 33 AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus, J Am Soc Nephrol, 11, 1044, 10.1681/ASN.V1161044 Cheng, 1997, Three-dimensional organization of a human water channel, Nature, 387, 627, 10.1038/42517 Deen, 1994, Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine, Science, 264, 92, 10.1126/science.8140421 Fushimi, 1993, Cloning and expression of apical membrane water channel of rat kidney collecting tubule, Nature, 361, 549, 10.1038/361549a0 Goji, 1998, Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function, J Clin Endocrinol Metab, 83, 3205 Halban, 1994, Sorting and processing of secretory proteins, Biochem J, 299, 1, 10.1042/bj2990001 Ishibashi, 1998, The dichotomy of MIP family suggests the origin of water channels, News Physiol Sci, 13, 137 Jascur, 1991, Oligomerization and intracellular protein transport: dimerization of intestinal dipeptidylpeptidase IV occurs in the Golgi apparatus, Biochemistry, 30, 1908, 10.1021/bi00221a025 Jung, 1994, Molecular structure of the water channel through aquaporin CHIP, J Biol Chem, 269, 14648, 10.1016/S0021-9258(17)36674-7 Kamsteeg, 1999, An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus, EMBO J, 18, 2394, 10.1093/emboj/18.9.2394 Kuwahara, 1995, cAMP-dependent phosphorylation stimulates water permeability of aquaporin-collecting duct water channel protein expressed in Xenopus oocytes, J Biol Chem, 270, 10384, 10.1074/jbc.270.18.10384 Kuwahara, 1999, Trans membrane helix 6 is critical for the high water permeability of aquaporin, Biochemistry, 38, 16340, 10.1021/bi9916776 Laemmli, 1970, Cleavage of structural proteins during the assembly of the head of bacteriopharge T4, Nature, 227, 680, 10.1038/227680a0 Mandon, 1996, Syntaxin-4 is localized to the apical plasma membrane of rat renal collecting duct cells: possible role in aquaporin-2 trafficking, J Clin Invest, 98, 906, 10.1172/JCI118873 Marples, 1995, Redistribution of aquaporin-2 water channels induced by vasopressin in rat kidney inner medullary collecting duct, Am J Physiol, 269, C655, 10.1152/ajpcell.1995.269.3.C655 Marples, 1998, Dynein and dynactin colocalize with AQP2 water channels in intracellular vesicles from kidney collecting duct, Am J Physiol, 274, F384 Morello, 2001, Nephrogenic diabetes insipidus, Annu Rev Physiol, 63, 607, 10.1146/annurev.physiol.63.1.607 Mulders, 1998, An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex, J Clin Invest, 102, 57, 10.1172/JCI2605 Murata, 2000, Structural determinants of water permeation through aquaporin-1, Nature, 407, 599, 10.1038/35036519 Musil, 1993, Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER, Cell, 74, 1065, 10.1016/0092-8674(93)90728-9 Nielsen, 1995, Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane, Proc Natl Acad Sci USA, 92, 1013, 10.1073/pnas.92.4.1013 Nielsen, 1995, Expression of VAMP2-like protein in kidney collecting duct intracellular vesicles: co-localization with aquaporin-2 water channels, J Clin Invest, 96, 1834, 10.1172/JCI118229 Ohzeki, 1984, Familial cases of congenital nephrogenic diabetes insipidus type II: Remarkable increment of urinary 3′, 5′-monophosphate in response to antidiuretic hormone, J Pediatr, 104, 593, 10.1016/S0022-3476(84)80556-9 Pan, 1992, Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus, Nat Genet, 2, 103, 10.1038/ng1092-103 Park, 1996, Phylogenetic characterization of the MIP family of transmembrane channel proteins, J Membr Biol, 153, 171, 10.1007/s002329900120 Preston, 1993, The mercury-sensitive residue at cysteine 189 in the CHIP28 water channel, J Biol Chem, 268, 17, 10.1016/S0021-9258(18)54108-9 Ramjeesingh, 1997, A novel procedure for efficient purification of the cystic fibrosis transmembrane conductance regulator (CFTR), Biochem J, 327, 17, 10.1042/bj3270017 Ramjeesingh, 1999, Novel method for evaluation of the oligomeric structure of membrane proteins, Biochem J, 342, 119, 10.1042/bj3420119 Sasaki, 1994, Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct, J Clin Invest, 93, 1250, 10.1172/JCI117079 Shepherd, 1995, The potential of fluorinated surfactants in membrane biochemistry, Anal Biochem, 224, 21, 10.1006/abio.1995.1003 Shinbo, 1999, Functional analysis of aquaporin-2 mutants associated with nephrogenic diabetes insipidus by yeast expression, Am J Physiol, 277, F734 Wall, 1989, Isolation of plasma membrane complexes from Xenopus oocytes, J Membr Biol, 107, 189, 10.1007/BF01871724 Walz, 1997, The three-dimensional structure of aquaporin-1, Nature, 387, 624, 10.1038/42512 Yamamoto, 1995, Vasopressin increases AQP-CD water channel in the apical membrane of collecting cells without affecting AQP3 distribution in Brattleboro rat, Am J Physiol, 268, C1546, 10.1152/ajpcell.1995.268.6.C1546