Unusual clinical presentation and possible rescue of a novel claudin-16 mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 8, 2006, Pages 3076-3079

  Müller, Dominik ^a   Kausalya, P Jaya ^b   Bockenhauer, Detlef ^c   Thumfart, Julia ^a   Meij, Iwan C ^d   Dillon, Michael J ^e   Van't Hoff, William ^c   Hunziker, Walter ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CLATHRIN; CLAUDIN; MAGNESIUM; MEMBRANE PROTEIN; MUTANT PROTEIN; PROTEIN CLDN16; THIAZIDE DIURETIC AGENT; UNCLASSIFIED DRUG; VITAMIN D;

BLOOD ANALYSIS; CASE REPORT; CLINICAL FEATURE; DRUG URINE LEVEL; ENDOPLASMIC RETICULUM; FAMILIAL DISEASE; FEMALE; FLANK PAIN; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC TRAIT; HEMATURIA; HETEROZYGOTE; HUMAN; HUMAN CELL; HYPERCALCIURIA; HYPOCALCEMIA; HYPOMAGNESEMIA; IMMUNOFLUORESCENCE TEST; INFANT; KIDNEY CALCIFICATION; LABORATORY TEST; LYSOSOME; MALE; MICROSCOPY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVIEW; SCHOOL CHILD; SEIZURE; URINALYSIS; VITAMIN SUPPLEMENTATION;

EID: 33747685293     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0200     Document Type: Article

References (18)

1. Tsukita S, Furuse M, Itoh M 2001 Multifunctional strands in tight junctions. Nat Rev Mol Cell Biol 2:285-293
2. Loh Y, Christoffels A, Brenner S, Hunziker W, Venkatesh B 2004 Extensive expansion of the Claudin gene family in the teleost fish, Fugu rubripes. Genome Res 14:1248-1257
3. Lee DB, Huang E, Ward HJ 2006 Tight junction biology and kidney dysfunction. Am J Physiol Renal 290:20-34
4. 2+ resorption. Science 285:103-106
5. Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, Bonzel KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M 2001 Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12:1872-1881
6. Müller D, Kausalya PJ, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W 2003 A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am J Hum Genet 73:1293-1301
7. Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL 1995 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47:1419-1452
8. Nabi IR, Le Bivic A, Fambrough D, Rodriguez-Boulan E 1991 An endogenous MDCK lysosomal membrane glycoprotein is targeted basolaterally before delivery to lysosomes. J Cell Biol 115:1573-1584
9. 2+ transport function of Claudin-16. J Clin Invest 116:878-891
10. Kausalya PJ, Reichert M, Hunziker W 2001 Connexin45 directly binds to ZO-1 and localizes to the tight junction region in epithelial MDCK cells. FEBS Lett 505:92-96
11. Kausalya PJ, Phua DC, Hunziker W 2004 Association of ARVCF with zonula occludens (ZO)-1 and ZO-2: binding to PDZ-domain proteins and cell-cell adhesion regulate plasma membrane and nuclear localization of ARVCF. Mol Biol Cell 15:5503-5515
12. Sandvig K, Olsnes S, Petersen OW, van Deurs B 1987 Acidification of the cytosol inhibits endocytosis from coated pits. J Cell Biol 105:679-689
13. Heuser JE, Anderson RG 1989 Hypertonic media inhibit receptor-mediated endocytosis by blocking clathrin-coated pit formation. J Cell Biol 108:389-400
14. Kang JH, Choi HJ, Cho HY, Lee JH, Ha IS, Cheong HI, Choi Y 2005 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. Pediatr Nephrol 20:1490-1493
15. Müller D, Kausalya PJ, Meij IC, Hunziker W 2006 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail. Hum Mol Genet 15:1049-1058
16. Ikari A, Hirai N, Shiroma M, Harada H, Sakai H, Hayashi H, Suzuki Y, Degawa M, Takagi K 2004 Association of paracellin-1 with ZO-1 augments the reabsorption of divalent cations in renal epithelial cells. J Biol Chem 279:54826-54832
17. Wang LH, Rothberg KG, Anderson RG 1993 Mis-assembly of clathrin lattices on endosomes reveals a regulatory switch for coated pit formation. J Cell Biol 123:1107-1117
18. Hill T, Odell LR, Edwards JK, Graham ME, McGeachie AB, Rusak J, Quan A, Abagyan R, Scott JL, Robinson PJ, McCluskey 2005 A Small molecule inhibitors of dynamin I GTPase activity: development of dimeric tyrphostins. J Med Chem 48:7781-7788