Liddle's disease: Abnormal regulation of amiloride-sensitive Na+ channels by β-subunit mutation

American Journal of Physiology - Cell Physiology

Volumn 270, Issue 1 39-1, 1996, Pages

  Bubien, James K ^a   Ismailov, Iskander I ^b   Berdiev, Bakhram K ^b   Cornwell, Trudy ^b   Lifton, Richard P ^b   Fuller, Catherine M ^b   Achard, Jean Michel ^b   Benos, Dale J ^b   Warnock, David G ^b  

^a Center for Palliative Care   (United States)

^b NONE

Author keywords

hypertension; lymphocytes; pseudoaldosteronism; whole cell patch clamp

Indexed keywords

8 (4 CHLOROPHENYLTHIO) CYCLIC AMP; ALDOSTERONE; AMILORIDE; CYCLIC AMP DERIVATIVE; MUTANT PROTEIN; PERTUSSIS TOXIN; POLYPEPTIDE; RENIN; SODIUM CHANNEL; SODIUM ION;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BETA CHAIN; CHROMOSOME 16; CONTROLLED STUDY; HUMAN; HUMAN CELL; HYPERTENSION; KIDNEY DISEASE; LYMPHOCYTE; MUTATION; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SODIUM CONDUCTANCE;

EID: 0030020027     PISSN: 03636143     EISSN: None     Source Type: Journal    
DOI: 10.1152/ajpcell.1996.270.1.c208     Document Type: Article

References (17)

1. Ausiello, D. A., K. L. Skorecki, A. S. Verkman, and J. V. Bonventre. Vasopressin signaling in kidney cells. Kidney Int. 31: 521-529, 1987.
2. Botero-Velez, M., J. J. Curtis, and D. G. Warnock. Brief report: Liddle's syndrome revisited. N. Engl. J. Med. 330: 178-181, 1994.
3. + channel complex from rat lymphocytes. Am. J. Physiol. 269 (Cell Physiol. 38): C601-C611, 1995.
4. Bubien, J. K., R. S. Jope, and D. G. Warnock. G-proteins modulate amiloride-sensitive sodium channels. J. Biol. Chem. 269:17780-17783, 1994.
5. Bubien, J. K., and D. G. Warnock. Amiloride-sensitive sodium conductance in human B lymphoid cells. Am. J. Physiol. 265 (Cell Physiol. 34): C1175-C1183, 1993.
6. Canessa, C. M., L. Schild, G. Buell, B. Thorens, Y. Gautschil, J.-D. Horisberger, and B. C. Rossier. The amiloridesensitive epithelial sodium channel is made of three homologous subunits. Nature Lond. 367:463-467, 1994.
7. i-3, activates a pertussis toxin sensitive Na channel from epithelial cell line A6. J. Biol. Chem. 264: 20867-20870, 1989.
8. Dostmann, W. R., S. S. Taylor, H. G. Genieser, B. Jastorff, S. O. Dokeland, and D. Ogreid. Probing the cyclic nucleotide binding sites of cAMP-dependent protein kinases I and II with analogues of adenosine 3′,5′-cyclic phosphorothioates. J. Biol. Chem. 265:10484-10491, 1990.
9. Gadallah, M. F., K. Abreo, and J. Work. Liddle's syndrome: an underrecognized entity. A report of four cases, including the first report in black individuals. Am. J. Kidney Dis. 25: 829-835, 1995.
10. + channels in Liddle's disease. Am. J. Physiol. 270 (Cell Physiol. 39): C214-C223, 1995.
11. + channels in planar bilayer membranes. J. Biol. Chem. 269: 10235-10241, 1994.
12. Liddle, G. W., T. Bledsoe, and W. S. Coppage. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Am. Assoc. Physicians 76:199-213, 1963.
13. Noblins, M., D. Kleinknecht, J. P. Dommergues, C. Nazaret, R. P. Garay, M. Jullien, and M. Guillot. Syndrome de Liddle (ou pseudo-hyperaldosteronisme). Evolution à long terme et étude des flux potassiques erythrocytaries dans 4 observations. Arch. Fr. Pediatr. 49: 685-691, 1992.
14. + conductance produced in rat CCD by vasopressin. Am. J. Physiol. 259 (Renal Fluid Electrolyte Physiol. 28): F823-F831, 1990.
15. Shimkets, R. A., D. G. Warnock, C. M. Bositis, C. Nelson-Williams, J. H. Hansson, M. Schambelan, and J. R. Gill. Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell 79: 407-414, 1994.
16. Warnock, D. G., and J. K. Bubien. Liddle syndrome: clinical and cellular abnormalities. Hosp. Pract. 29: 95-105, 1994.
17. Warnock, D. G., and J. K. Bubien. Liddle's syndrome: a public health menace? Am. J. Kidney Dis. 25: 924-927, 1995.