Cystic Fibrosis and other channelopathies;La mucoviscidose et autres canalopathies

Archives de Pediatrie

Volumn 19, Issue SUPPL.1, 2012, Pages

  Edelman, A ^a   Saussereau, E ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CATION CHANNEL; CHLORIDE CHANNEL; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CFTR GENE; CHANNELOPATHY; CYSTIC FIBROSIS; GENE; GENE MUTATION; INFLAMMATION; INTESTINE EPITHELIUM; ION TRANSPORT; LUNG ALVEOLUS EPITHELIUM; MOLECULAR MECHANICS; PANCREAS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TARGETING; UPPER RESPIRATORY TRACT;

CHANNELOPATHIES; CHILD; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HUMANS;

EID: 84862000390     PISSN: 0929693X     EISSN: 1769664X     Source Type: Journal    
DOI: 10.1016/S0929-693X(12)71101-6     Document Type: Article

References (14)

1. Planells-Cases R., Jentsch T.J. Chloride channelopathies. Biochim Biophys Acta 2009, 1792:173-189.
2. Ollero M., Brouillard F., Edelman A. Cystic fibrosis enters the proteomics scene: new answers to old questions. Proteomics 2006, 6:4084-4099.
3. Caputo A., Caci E., Ferrera L., et al. TMEM16A, a membrane protein associated with calcium-dependent chloride channel activity. Science 2008, 322:590-594.
4. Fritsch J., Edelman A. Modulation of the hyperpolarization-activated Cl-current in human intestinal T84 epithelial cells by phosphorylation. J Physiol 1996, 490(Pt 1):115-128.
5. Hubner C.A., Jentsch T.J. Ion channel diseases. Hum Mol Genet 2002, 11:2435-2445.
6. Jentsch T.J. CLC chloride channels and transporters: from genes to protein structure, pathology and physiology. Crit Rev Biochem Mol Biol 2008, 43:3-36.
7. Poet M., Kornak U., Schweizer M., et al. Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc Natl Acad Sci U S A 2006, 103:13854-13859.
8. Wellhauser L., D'Antonio C., Bear C.E. ClC transporters: discoveries and challenges in defining the mechanisms underlying function and regulation of ClC-5. Pflugers Arch 2010, 460:543-557.
9. Kiselyov K., Soyombo A., Muallem S. TRPpathies. J Physiol 2007, 578:641-653.
10. Woudenberg-Vrenken T.E., Bindels R.J., Hoenderop J.G. The role of transient receptor potential channels in kidney disease. Nat Rev Nephrol 2009, 5:441-449.
11. Torres V.E., Harris P.C. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009, 76:149-168.
12. Boucher C., Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900. PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet 2004, 12:347-354.
13. Schlingmann K.P., Waldegger S., Konrad M., et al. TRPM6 and TRPM7-Gatekeepers of human magnesium metabolism. Biochim Biophys Acta 2007, 1772:813-821.
14. Rotin D. Role of the UPS in Liddle syndrome. BMC Biochem 2008, 9(Suppl 1):S5.