Defective trafficking of nephrin missense mutants rescued by a chemical chaperone

Journal of the American Society of Nephrology

Volumn 15, Issue 7, 2004, Pages 1731-1738

  Liu, Xiao Li ^a   Doné, Stefania Cotta ^a   Yan, Kunimasa ^b   Kilpeläinen, Pekka ^c   Pikkarainen, Timo ^a   Tryggvason, Karl ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KYORIN UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF OULU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; MEMBRANE PROTEIN; MUTANT PROTEIN; NEPHRIN; PROTEIN ANTIBODY;

ARTICLE; BIOTINYLATION; CELL SURFACE; CONGENITAL NEPHROTIC SYNDROME; DELETION MUTANT; ENDOPLASMIC RETICULUM; GENE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; INTRACELLULAR TRANSPORT; MISSENSE MUTATION; NPHS1 GENE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN FOLDING; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; WILD TYPE;

EID: 3042623796     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ASN.0000129826.28932.FD     Document Type: Article

References (33)

1. Hallman N, Norio R, Kouvalainen K: Main features of the congenital nephrotic syndrome. Acta Paediatr Scand Suppl 172: 175-178, 1967
2. Holmberg C, Laine J, Ronnholm K, Ala-Houhala M, Jalanko H: Congenital nephrotic syndrome. Kidney Int Suppl 53: S51-S56, 1996
3. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K: Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1: 575-582, 1998
4. Ruotsalainen V, Ljungberg P, Wartiovaara J, Lenkkeri U, Kestila M, Jalanko H, Holmberg C, Tryggvason K: Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A 96: 7962-7967, 1999
5. Beltcheva O, Martín P, Lenkkeri U, Tryggvason K: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17: 368-373, 2001
6. Gigante M, Monno F, Roberto R, Laforgia N, Assael MB, Livolti S, Caringella A, La Manna A, Masella L, Iolascon A: Congenital nephrotic syndrome of the Finnish type in Italy: A molecular approach. J Nephrol 15: 696-702, 2002
7. Koziell A, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K, Scambler P: Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 11: 379-388, 2002
8. Liu L, Done SC, Khoshnoodi J, Bertorello A, Wartiovaara J, Berggren PO, Tryggvason K: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet 10: 2637-2644, 2001
9. Rubenstein RC, Egan ME, Zeitlin PL: In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J Clin Invest 100: 2457-2465, 1997
10. Burrows JA, Willis LK, Perlmutter DH: Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency. Proc Natl Acad Sci U S A 97: 1796-1801, 2000
11. Ruotsalainen V, Patrakka J, Tissari P, Reponen P, Hess M, Kestila M, Holmberg C, Salonen R, Heikinheimo M, Wartiovaara J, Tryggvason K, Jalanko H: Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol 157: 1905-1916, 2000
12. Ruotsalainen V, Reponen P, Khoshnoodi J, Kilpeläinen P, Tryggvason K: Monoclonal antibodies to human nephrin. Hybrid Hybridomics 23: 55-63, 2004
13. Barletta GM, Kovari IA, Verma RK, Kerjaschki D, Holzman LB: Nephrin and Neph1 co-localize at the podocyte foot process intercellular junction and form cis hetero-oligomers. J Biol Chem 278: 19266-19271, 2003
14. Gerke P, Huber TB, Sellin L, Benzing T, Walz G: Homodimerization and heterodimerization of the glomerular podocyte proteins nephrin and NEPH1. J Am Soc Nephrol 14: 918-926, 2003
15. Liu G, Kaw B, Kurfis J, Rahmanuddin S, Kanwar YS, Chugh SS: Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability. J Clin Invest 112: 209-221, 2003
16. Huber TB, Kottgen M, Schilling B, Walz G, Benzig T: Interaction with podocin facilitates nephrin signaling. J Biol Chem 276: 41543-41546, 2001
17. Lahdenpera J, Kilpelainen P, Liu XL, Pikkarainen T, Reponen P, Ruotsalainen V, Tryggvason K: Clustering-induced tyrosine phosphorylation of nephrin by Src family kinases. Kidney Int 64: 404-413, 2003
18. Huber TB, Hartleben B, Kim J, Schmidts M, Schermer B, Keil A, Egger L, Lecha RL, Borner C, Pavenstadt H, Shaw AS, Walz G, Benzing T: Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 23: 4917-4928, 2003
19. Fewell SW, Travers KJ, Weissman JS, Brodsky JL: The action of molecular chaperones in the early secretory pathway. Annu Rev Genet 35: 149-191, 2001
20. Ellgaard L, Helenius A: ER quality control: Towards an understanding at the molecular level. Curr Opin Cell Biol 13: 431-437, 2001
21. Ellgaard L, Helenius A: Quality control in the endoplasmic reticulum. Nat Rev Mol Cell Biol 4: 181-191, 2003
22. Thomas PJ, Qu BH, Pedersen PL: Defective protein folding as a basis of human disease. Trends Biochem Sci 20: 456-459, 1995
23. Kuznetsov G, Nigam SK: Folding of secretory and membrane proteins. N Engl J Med 339: 1688-1695, 1998
24. Bross P, Corydon TJ, Andresen BS, Jorgensen MM, Bolund L, Gregersen N: Protein misfolding and degradation in genetic diseases. Hum Mutat 14: 186-198, 1999
25. Brusilow SW: Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr Res 29: 147-150, 1991
26. Zeitlin PL, Diener-West M, Rubenstein RC, Boyle MP, Lee CK, Brass-Ernst L: Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. Mol Ther 6: 119-126, 2002
27. Choo-Kang LR, Zeitlin PL: Induction of HSP70 promotes DeltaF508 CFTR trafficking. Am J Physiol Lung Cell Mol Physiol 281: L58-L68, 20013
28. Rubenstein RC, Lyons BM: Sodium 4-phenylbutyrate downregulates HSC70 expression by facilitating mRNA degradation. Am J Physiol Lung Cell Mol Physiol 281: L43-L51, 2001
29. Simons M, Schwartz K, Kriz W, Miettinen A, Reiser J, Mundel P, Holthofer H: Involvement of lipids rafts in nephrin phosphorylation and organization of the glomerular slit diaphragm. Am J Pathol 159: 1069-1077, 2001
30. Huber TB, Simons M, Hartleben B, Sernetz L, Schmidts M, Gundlach E, Saleem MA, Walz G, Benzig T: Molecular basis of the functional podocin-nephrin complex: Mutations in NPHS2 gene disrupt nephrin targeting to lipid raft microdomains. Hum Mol Genet 12: 3397-3405, 2003
31. Ohashi T, Uchida K, Uchida S, Sasaki S, Nihei H: Intracellular mislocalization of mutant podocin and correction by chemical chaperons. Histochem Cell Biol 119: 257-264, 2003
32. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24: 349-354, 2000
33. Caridi G, Bertelli R, Carrea A, Di Duca M, Catarsi P, Artero M, Carraro M, Zennaro C, Candiano G, Musante L, Seri M, Ginevri F, Perfumo F, Ghiggeri GM: Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 12: 2742-2746, 2001