Pathogenesis of nephrogenic diabetes insipidus by aquaporin-2 C-terminus mutations

Kidney International - Tập 64 Số 1 - Trang 2-10 - 2003
Tomoki Asai1, Michio Kuwahara, Hidetake Kurihara, Tatsuo Sakai, Yoshio Terada, Fumiaki Marumo, Sei Sasaki
1Department of Homeostasis Medicine and Nephrology, Tokyo Medical and Dental University Graduate School, Tokyo, Japan.

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Fushimi, 1993, Cloning and expression of apical membrane water channel of rat kidney collecting tubule, Nature, 361, 549, 10.1038/361549a0

Morello, 2001, Nephrogenic diabetes insipidus, Annu Rev Physiol, 63, 607, 10.1146/annurev.physiol.63.1.607

Nielsen, 2002, Aquaporins in the kidney, Physiol Rev, 82, 205, 10.1152/physrev.00024.2001

Deen, 1994, Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine, Science, 264, 92, 10.1126/science.8140421

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

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, 2001, Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus, Am J Hum Genet, 69, 738, 10.1086/323643

Marr, 2002, Heteroligomerization of an aquaporin-2 mutant with wild-type aquaporin-2 and their misrouting to late endosomes/lysozomes explains dominant nephrogenic diabetes insipidus, Hum Mol Genet, 11, 779, 10.1093/hmg/11.7.779

Lefebvre, 1995, Improvement of the gene splicing overlap (SOE)method, Biotechniques, 19, 186

Handler, 1983, Use of cultured epithelia to study transport and its regulation, J Exp Biol, 106, 55, 10.1242/jeb.106.1.55

Horster, 1986, Transport and metabolic functions in cultured renal tubule cells, Kidney Int, 29, 46, 10.1038/ki.1986.7

Keller, 2001, Multicolor imaging of post-Golgi sorting and trafficking in live cells, Nat Cell Biol, 3, 140, 10.1038/35055042

Dillon, 2002, Basolateral targeting of ERBB2 is dependent on a novel bipartite juxtamembrane sorting signal but independent of the C-terminal ERBIN-binding domain, Mol Cell Biol, 22, 6553, 10.1128/MCB.22.18.6553-6563.2002

Nielsen, 1993, Cellular and subcellular immunolocalization of vasopressin-regulated water channel in rat kidney, Proc Natl Acad Sci USA, 90, 11663, 10.1073/pnas.90.24.11663

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

Deen, 1997, Aquaporin-2 transfection of Madin-Darby canine kidney cells reconstitutes vasopressin-regulated transcellular osmotic water transport, J Am Soc Nephrol, 8, 1493, 10.1681/ASN.V8101493

Mulders, 1997, New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels, J Am Soc Nephrol, 8, 242, 10.1681/ASN.V82242

Marr, 2002, Cell-biologic and functional analysis of five new aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus, J Am Soc Nephrol, 13, 2267, 10.1097/01.ASN.0000027355.41663.14

Cheng, 1990, Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis, Cell, 63, 827, 10.1016/0092-8674(90)90148-8

Moyer, 1999, A PDZ-interacting domain in CFTR is an apical membrane polarization signal, J Clin Invest, 104, 1353, 10.1172/JCI7453

Sanders, 2001, Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins, Biochemistry, 40, 9453, 10.1021/bi010894f

Abrams, 2000, Mutations in connexin 32: The molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease, Brain Res Brain Res Rev, 32, 203, 10.1016/S0165-0173(99)00082-X

Hobbs, 1990, The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein, Annu Rev Genet, 24, 133, 10.1146/annurev.ge.24.120190.001025

Matter, 1994, Mechanisms of cell polarity: sorting and transport in epithelial cells, Curr Opin Cell Biol, 6, 545, 10.1016/0955-0674(94)90075-2

Harder, 1997, Caveolae, DIGs, and the dynamics of sphingolipid-cholesterol microdomains, Curr Opin Cell Biol, 9, 534, 10.1016/S0955-0674(97)80030-0

Rothman, 1994, Implications of the SNARE hypothesis for intracellular membrane topology and dynamics, Curr Biol, 4, 220, 10.1016/S0960-9822(00)00051-8

Hay, 1997, SNAREs and NSF in targeted membrane fusion, Curr Opin Cell Biol, 9, 505, 10.1016/S0955-0674(97)80026-9

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

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

Madrid, 2001, Polarized trafficking and surface expression of the AQP4 water channel are coordinated by serial and regulated interactions with different clathrin-adaptor complexes, EMBO J, 20, 7008, 10.1093/emboj/20.24.7008