Scnn1b

Summary

Gene Symbol: Scnn1b
Description: sodium channel, nonvoltage-gated 1 beta
Alias: amiloride-sensitive sodium channel subunit beta, ENaC beta, SCNEB, beta-ENaC, beta-NaCH, epithelial Na(+) channel subunit beta, nonvoltage-gated sodium channel 1 subunit beta
Species: mouse
Products:     Scnn1b

Top Publications

  1. Dahlmann A, Pradervand S, Hummler E, Rossier B, Frindt G, Palmer L. Mineralocorticoid regulation of epithelial Na+ channels is maintained in a mouse model of Liddle's syndrome. Am J Physiol Renal Physiol. 2003;285:F310-8 pubmed
    ..77; L/L: 0.80). Thus the increase in whole cell current is attributed to a difference in the density of conducting channels. ..
  2. Pradervand S, Vandewalle A, Bens M, Gautschi I, Loffing J, Hummler E, et al. Dysfunction of the epithelial sodium channel expressed in the kidney of a mouse model for Liddle syndrome. J Am Soc Nephrol. 2003;14:2219-28 pubmed
    ..Aldosterone (5 x 10(-7)M for 3 h) further increased I(eq) from cultured L/L CCD. Thus, this study brings three independent lines of evidence for the constitutive hyperactivity of ENaC in CCD from mice harboring the Liddle mutation. ..
  3. Hummler E, Barker P, Gatzy J, Beermann F, Verdumo C, Schmidt A, et al. Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet. 1996;12:325-8 pubmed
    ..Alpha-ENaC(-/-) neonates developed respiratory distress and died within 40 h of birth from failure to clear their lungs of liquid. This study shows that ENaC plays a critical role in the adaptation of the newborn lung to air breathing. ..
  4. Pradervand S, Barker P, Wang Q, Ernst S, Beermann F, Grubb B, et al. Salt restriction induces pseudohypoaldosteronism type 1 in mice expressing low levels of the beta-subunit of the amiloride-sensitive epithelial sodium channel. Proc Natl Acad Sci U S A. 1999;96:1732-7 pubmed
  5. Randrianarison N, Escoubet B, Ferreira C, Fontayne A, Fowler Jaeger N, Clerici C, et al. beta-Liddle mutation of the epithelial sodium channel increases alveolar fluid clearance and reduces the severity of hydrostatic pulmonary oedema in mice. J Physiol. 2007;582:777-88 pubmed
    ..oedema in the beta-Liddle (L) mouse strain harbouring a gain-of-function mutation (R(566)(stop)) within the Scnn1b gene...
  6. Harvey K, Dinudom A, Cook D, Kumar S. The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel. J Biol Chem. 2001;276:8597-601 pubmed
    ..We propose that KIAA0439 and Nedd4 proteins either play a redundant role in ENaC regulation or function in a tissue- and/or signal-specific manner to down-regulate ENaC. ..
  7. Fotia A, Dinudom A, Shearwin K, Koch J, Korbmacher C, Cook D, et al. The role of individual Nedd4-2 (KIAA0439) WW domains in binding and regulating epithelial sodium channels. FASEB J. 2003;17:70-2 pubmed
    ..These data suggest that Nedd4-2 WW3 and WW4 interact with distinct, noninterchangeable sites in ENaC and that to prevent Na+ feedback control of ENaC it is necessary to occlude both sites. ..
  8. McDonald F, Yang B, Hrstka R, Drummond H, Tarr D, McCray P, et al. Disruption of the beta subunit of the epithelial Na+ channel in mice: hyperkalemia and neonatal death associated with a pseudohypoaldosteronism phenotype. Proc Natl Acad Sci U S A. 1999;96:1727-31 pubmed
    ..The phenotype of the betaENaC-deficient mice is similar to that of humans with pseudohypoaldosteronism type 1 and may provide a useful model to study the pathogenesis and treatment of this disorder. ..
  9. Pradervand S, Wang Q, Burnier M, Beermann F, Horisberger J, Hummler E, et al. A mouse model for Liddle's syndrome. J Am Soc Nephrol. 1999;10:2527-33 pubmed
    ..This animal model reproduces to a large extent a human form of salt-sensitive hypertension and establishes a causal relationship between dietary salt, a gene expressed in kidney and hypertension. ..

More Information

Publications75

  1. Bruns J, Carattino M, Sheng S, Maarouf A, Weisz O, Pilewski J, et al. Epithelial Na+ channels are fully activated by furin- and prostasin-dependent release of an inhibitory peptide from the gamma-subunit. J Biol Chem. 2007;282:6153-60 pubmed
    ..Our results suggest that multiple proteases cleave ENaC gamma subunits to fully activate the channel. ..
  2. Mohan S, Bruns J, Weixel K, Edinger R, Bruns J, Kleyman T, et al. Differential current decay profiles of epithelial sodium channel subunit combinations in polarized renal epithelial cells. J Biol Chem. 2004;279:32071-8 pubmed
  3. Booth R, Tong Q, Medina J, Snyder P, Patel P, Stockand J. A region directly following the second transmembrane domain in gamma ENaC is required for normal channel gating. J Biol Chem. 2003;278:41367-79 pubmed
    ..Similar to deletion of Gln573-Pro600, deletion of Gln573-Arg583 but not Thr584-Pro600 decreased ENaC activity. The current results demonstrate that residues within Gln573-Arg583 of gammaENaC are necessary for normal channel gating. ..
  4. Hansson J, Nelson Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, et al. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995;11:76-82 pubmed
  5. Vanlandingham L, Gannon K, Drummond H. Pressure-induced constriction is inhibited in a mouse model of reduced betaENaC. Am J Physiol Regul Integr Comp Physiol. 2009;297:R723-8 pubmed publisher
    ..Our findings indicate betaENaC is required for normal pressure-induced constriction in the MCA and provide further support for the hypothesis that betaENaC proteins are components of a mechanosensor in VSMCs. ..
  6. Rajagopal M, Kathpalia P, Widdicombe J, Pao A. Differential effects of extracellular ATP on chloride transport in cortical collecting duct cells. Am J Physiol Renal Physiol. 2012;303:F483-91 pubmed publisher
    ..This interplay between aldosterone and purinergic signaling pathways may be relevant for regulating NaCl transport in cortical collecting duct cells under different states of extracellular fluid volume. ..
  7. Yamaguchi Y, Yonemura S, Takada S. Grainyhead-related transcription factor is required for duct maturation in the salivary gland and the kidney of the mouse. Development. 2006;133:4737-48 pubmed
    ..Furthermore, the composition of saliva and urine was abnormal in these mice. These results indicate that Cp2l1 expression is required for normal duct development in both the salivary gland and kidney. ..
  8. Boyd C, NARAY FEJES TOTH A. Steroid-mediated regulation of the epithelial sodium channel subunits in mammary epithelial cells. Endocrinology. 2007;148:3958-67 pubmed
    ..Our data indicate that both mouse and human mammary cells express all ENaC subunits, and they are regulated by steroid hormones in a temporal and cell-specific manner both in culture and in vivo. ..
  9. Mérillat A, Charles R, Porret A, Maillard M, Rossier B, Beermann F, et al. Conditional gene targeting of the ENaC subunit genes Scnn1b and Scnn1g. Am J Physiol Renal Physiol. 2009;296:F249-56 pubmed publisher
    ..Since complete gene inactivation of the beta- and gamma-ENaC subunit genes (Scnn1b and Scnn1g) leads to early postnatal death, we generated conditional alleles and obtained mice harboring floxed ..
  10. Pandit M, Strait K, Matsuda T, Kohan D. Na delivery and ENaC mediate flow regulation of collecting duct endothelin-1 production. Am J Physiol Renal Physiol. 2012;302:F1325-30 pubmed publisher
    ..This constitutes the first report of either ENaC or mitochondrial NCX regulation of an autocrine factor in any biologic system. ..
  11. Elias N, Rafii B, Rahman M, Otulakowski G, Cutz E, O Brodovich H. The role of alpha-, beta-, and gamma-ENaC subunits in distal lung epithelial fluid absorption induced by pulmonary edema fluid. Am J Physiol Lung Cell Mol Physiol. 2007;293:L537-45 pubmed
    ..01) across all genotype groups. We conclude that beta- and gamma-, but not alpha-, ENaC subunits are essential for EF to exert its maximal effect on net fluid absorption by distal lung epithelia. ..
  12. Mall M. Role of the amiloride-sensitive epithelial Na+ channel in the pathogenesis and as a therapeutic target for cystic fibrosis lung disease. Exp Physiol. 2009;94:171-4 pubmed publisher
    ..These results support a critical role of ENaC in the in vivo pathogenesis of CF lung disease and suggest that amiloride may be an effective preventive therapy for CF patients. ..
  13. Brooker D, Kozak C, Kleyman T. Epithelial sodium channel genes Scnn1b and Scnn1g are closely linked on distal mouse chromosome 7. Genomics. 1995;29:784-6 pubmed
    The chromosomal localizations of Scnn1b and Scnn1g, genes corresponding to the beta- and gamma-subunits, respectively, of an epithelial non-voltage-gated amiloride-sensitive sodium channel, were determined by analyses of two sets of ..
  14. Ahn Y, Brooker D, Kosari F, Harte B, Li J, Mackler S, et al. Cloning and functional expression of the mouse epithelial sodium channel. Am J Physiol. 1999;277:F121-9 pubmed
  15. Chang C, Bens M, Hummler E, Boulkroun S, Schild L, Teulon J, et al. Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome. J Physiol. 2005;562:271-84 pubmed
    ..This effect could contribute to the enhanced NaCl reabsorption observed in the distal nephron of patients with Liddle's syndrome. ..
  16. Perlewitz A, Nafz B, Skalweit A, Fähling M, Persson P, Thiele B. Aldosterone and vasopressin affect {alpha}- and {gamma}-ENaC mRNA translation. Nucleic Acids Res. 2010;38:5746-60 pubmed publisher
    ..Immunoprecipitation and UV-crosslinking analysis of ?-ENaC-mRNA/HuR complexes document the significance of ?-ENaC-mRNA-3'-UTR/HuR interaction for hormonal control of ENaC synthesis...
  17. Guipponi M, Vuagniaux G, Wattenhofer M, Shibuya K, Vazquez M, Dougherty L, et al. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Hum Mol Genet. 2002;11:2829-36 pubmed
  18. Bruns J, Hu B, Ahn Y, Sheng S, Hughey R, Kleyman T. Multiple epithelial Na+ channel domains participate in subunit assembly. Am J Physiol Renal Physiol. 2003;285:F600-9 pubmed
    ..These data suggest that multiple sites within the alpha-subunit participate in subunit-subunit interactions that are required for proper assembly of the heterooligomeric ENaC complex. ..
  19. Edinger R, Lebowitz J, Li H, Alzamora R, Wang H, Johnson J, et al. Functional regulation of the epithelial Na+ channel by IkappaB kinase-beta occurs via phosphorylation of the ubiquitin ligase Nedd4-2. J Biol Chem. 2009;284:150-7 pubmed publisher
    ..In summary, these results suggest a novel mode of ENaC regulation that occurs through IKKbeta-dependent Nedd4-2 phosphorylation at a recognized SGK1 and protein kinase A target site. ..
  20. Rossier B, Staub O, Hummler E. Genetic dissection of sodium and potassium transport along the aldosterone-sensitive distal nephron: importance in the control of blood pressure and hypertension. FEBS Lett. 2013;587:1929-41 pubmed publisher
    ..This will allow to design rational strategies for the treatment of hypertension and for the development of the next generation of diuretics. ..
  21. Staruschenko A, Medina J, Patel P, Shapiro M, Booth R, Stockand J. Fluorescence resonance energy transfer analysis of subunit stoichiometry of the epithelial Na+ channel. J Biol Chem. 2004;279:27729-34 pubmed
    ..The current results as a whole, thus, are most consistent with a higher ordered channel possibly with a 3alpha:3beta:3gamma stoichiometry. ..
  22. Cao X, Shi P, Sigmund R, Husted R, Sigmund C, Williamson R, et al. Mice heterozygous for beta-ENaC deletion have defective potassium excretion. Am J Physiol Renal Physiol. 2006;291:F107-15 pubmed
    ..These experiments demonstrate that mice heterozygous for beta-ENaC have a small but detectable defect in their ability to conserve Na+ and a more readily apparent defect in the ability to secrete K+. ..
  23. Edinger R, Yospin J, Perry C, Kleyman T, Johnson J. Regulation of epithelial Na+ channels (ENaC) by methylation: a novel methyltransferase stimulates ENaC activity. J Biol Chem. 2006;281:9110-7 pubmed
    ..b>beta ENaC is a substrate for methylation in CCD cells...
  24. Wakida N, Kitamura K, Tuyen D, Maekawa A, Miyoshi T, Adachi M, et al. Inhibition of prostasin-induced ENaC activities by PN-1 and regulation of PN-1 expression by TGF-beta1 and aldosterone. Kidney Int. 2006;70:1432-8 pubmed
    ..PN-1 could represent a new factor that contributes to regulation of ENaC activity in the kidney. ..
  25. Mall M, Button B, Johannesson B, Zhou Z, Livraghi A, Caldwell R, et al. Airway surface liquid volume regulation determines different airway phenotypes in liddle compared with betaENaC-overexpressing mice. J Biol Chem. 2010;285:26945-55 pubmed publisher
    ..We conclude that the capacity to regulate Na(+) transport and ASL volume, not absolute Na(+) transport rates in Ussing chambers, is the key physiologic function protecting airways from dehydration-induced lung disease. ..
  26. Takahashi N, Smithies O. Gene targeting approaches to analyzing hypertension. J Am Soc Nephrol. 1999;10:1598-605 pubmed
    ..These various gene targeting experiments help identify genes regulating BP, promote a better understanding of the pathophysiology of the condition, and help identify potential targets for therapies. ..
  27. Li J, Sheng S, Perry C, Kleyman T. Asymmetric organization of the pore region of the epithelial sodium channel. J Biol Chem. 2003;278:13867-74 pubmed
    ..Our results, placed in context with previous observations, suggest that pore regions from the three ENaC subunits have an asymmetric organization. ..
  28. Falin R, Cotton C. Acute downregulation of ENaC by EGF involves the PY motif and putative ERK phosphorylation site. J Gen Physiol. 2007;130:313-28 pubmed
    ..Our results are consistent with an ERK-mediated decrease in ENaC open probability and enhanced retrieval of sodium channels from the apical membrane. ..
  29. Butterworth M, Edinger R, Ovaa H, Burg D, Johnson J, Frizzell R. The deubiquitinating enzyme UCH-L3 regulates the apical membrane recycling of the epithelial sodium channel. J Biol Chem. 2007;282:37885-93 pubmed
    ..This constitutes a novel function for UCH in epithelia and in the regulation of ion channels and demonstrates the dynamic regulation of apically located ENaC by recycling, which is facilitated by this DUB. ..
  30. Roos K, Bugaj V, Mironova E, Stockand J, Ramkumar N, Rees S, et al. Adenylyl cyclase VI mediates vasopressin-stimulated ENaC activity. J Am Soc Nephrol. 2013;24:218-27 pubmed publisher
    ..In summary, these data suggest that adenylyl cyclase VI mediates vasopressin-stimulated ENaC activity in the kidney...
  31. Chung W, Weissman J, FARLEY J, Drummond H. ?ENaC is required for whole cell mechanically gated currents in renal vascular smooth muscle cells. Am J Physiol Renal Physiol. 2013;304:F1428-37 pubmed publisher
    ..Our findings are consistent with the role of ?ENaC as a VSMC mechanosensor and function of evolutionarily related nematode degenerin proteins. ..
  32. Pavlov T, Ilatovskaya D, Levchenko V, Li L, Ecelbarger C, Staruschenko A. Regulation of ENaC in mice lacking renal insulin receptors in the collecting duct. FASEB J. 2013;27:2723-32 pubmed publisher
    ..This study provides new information about the importance of insulin receptors expressed in collecting duct principal cells for ENaC activity...
  33. Saini Y, Dang H, Livraghi Butrico A, Kelly E, Jones L, O Neal W, et al. Gene expression in whole lung and pulmonary macrophages reflects the dynamic pathology associated with airway surface dehydration. BMC Genomics. 2014;15:726 pubmed publisher
    ..b>Scnn1b-Tg mice, which exhibit chronic airway surface dehydration from birth, can be used as a model to study the ..
  34. Randrianarison N, Clerici C, Ferreira C, Fontayne A, Pradervand S, Fowler Jaeger N, et al. Low expression of the beta-ENaC subunit impairs lung fluid clearance in the mouse. Am J Physiol Lung Cell Mol Physiol. 2008;294:L409-16 pubmed
    ..Finally, adequate beta-ENaC expression appears to be required for AFC stimulation by beta2-agonists. ..
  35. Kim S, Kim K, Raveendran N, Wu T, Pondugula S, Marcus D. Regulation of ENaC-mediated sodium transport by glucocorticoids in Reissner's membrane epithelium. Am J Physiol Cell Physiol. 2009;296:C544-57 pubmed publisher
    ..These results provide an understanding and a molecular definition of an important transport function of Reissner's membrane epithelium in the homeostasis of cochlear endolymph...
  36. Sheng S, Maarouf A, Bruns J, Hughey R, Kleyman T. Functional role of extracellular loop cysteine residues of the epithelial Na+ channel in Na+ self-inhibition. J Biol Chem. 2007;282:20180-90 pubmed
  37. Crawshaw L, Wallace H, Christensen R, Crabbe J. Influence of ethanol on thermoregulation: mapping quantitative trait loci. Physiol Genomics. 2001;7:159-69 pubmed
    ..To our knowledge, this is the first report of QTLs that underlie changes in regulation as well as the disruption of a physiological regulatory system. ..
  38. Nabika T, Ito T, Kitada K, Serikawa T, Mashimo T, Soubrier F, et al. Comparative mapping of novel simple sequence repeat markers in a hypertension-related region on rat chromosome 1. Mamm Genome. 1997;8:215-7 pubmed
  39. Fotia A, Ekberg J, Adams D, Cook D, Poronnik P, Kumar S. Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2. J Biol Chem. 2004;279:28930-5 pubmed
    ..Interestingly, Nedd4 suppressed the activity of Na(v)1.2 and Na(v)1.7 but was a poor inhibitor of Na(v)1.8. Our results provide evidence that Nedd4 and Nedd4-2 are likely to be key regulators of specific neuronal Na(v) channels in vivo. ..
  40. Pech V, Thumová M, Dikalov S, Hummler E, Rossier B, Harrison D, et al. Nitric oxide reduces Cl? absorption in the mouse cortical collecting duct through an ENaC-dependent mechanism. Am J Physiol Renal Physiol. 2013;304:F1390-7 pubmed publisher
    ..We conclude that NO reduces Cl? absorption in the CCD through a mechanism that is ENaC-dependent. ..
  41. Maarouf A, Sheng N, Chen J, Winarski K, Okumura S, Carattino M, et al. Novel determinants of epithelial sodium channel gating within extracellular thumb domains. J Biol Chem. 2009;284:7756-65 pubmed publisher
    ..Our results demonstrate that alphaGly(481) and gammaMet(438) are functional determinants of Na(+) self-inhibition and of ENaC gating and suggest that the thumb domain contributes to the channel gating machinery. ..
  42. Lee I, Dinudom A, Sanchez Perez A, Kumar S, Cook D. Akt mediates the effect of insulin on epithelial sodium channels by inhibiting Nedd4-2. J Biol Chem. 2007;282:29866-73 pubmed
    ..Together these data suggest that both Akt and Sgk are components of an insulin signaling pathway that increases Na(+) absorption by up-regulating membrane expression of ENaC via a regulatory system that involves inhibition of Nedd4-2. ..
  43. Gille T, Randrianarison Pellan N, Goolaerts A, Dard N, Uzunhan Y, Ferrary E, et al. Hypoxia-induced inhibition of epithelial Na(+) channels in the lung. Role of Nedd4-2 and the ubiquitin-proteasome pathway. Am J Respir Cell Mol Biol. 2014;50:526-37 pubmed publisher
    ..Our data strongly suggest that Nedd4-2-mediated ubiquitination of ENaC leading to endocytosis and degradation of apical Na(+) channels is a key feature of hypoxia-induced inhibition of transepithelial alveolar Na(+) transport. ..
  44. Reisenauer M, Wang S, Xia Y, Zhang W. Dot1a contains three nuclear localization signals and regulates the epithelial Na+ channel (ENaC) at multiple levels. Am J Physiol Renal Physiol. 2010;299:F63-76 pubmed publisher
    ..In brief, Dot1a and AF9 downregulate Na(+) transport, most likely by regulating ENaC mRNA and subsequent protein expression and ENaC activity. ..
  45. Perrier R, Richard S, Sainte Marie Y, Rossier B, Jaisser F, Hummler E, et al. A direct relationship between plasma aldosterone and cardiac L-type Ca2+ current in mice. J Physiol. 2005;569:153-62 pubmed
    ..This regulation has important consequences for excitation-contraction coupling and, potentially, for other Ca(2)(+)-regulated functions in cardiomyocytes. ..
  46. Jernigan N, Drummond H. Vascular ENaC proteins are required for renal myogenic constriction. Am J Physiol Renal Physiol. 2005;289:F891-901 pubmed
  47. Harvey K, Dinudom A, Komwatana P, Jolliffe C, Day M, Parasivam G, et al. All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+. J Biol Chem. 1999;274:12525-30 pubmed
    ..We propose that Nedd4-mediated down-regulation of Na+ channels involves the binding of WW domains 2 and 3 to the Na+ channel and of WW domain 1 to an unknown associated protein. ..
  48. Pathak B, Shaughnessy J, Meneton P, Greeb J, Shull G, Jenkins N, et al. Mouse chromosomal location of three epithelial sodium channel subunit genes and an apical sodium chloride cotransporter gene. Genomics. 1996;33:124-7 pubmed
    The amiloride-sensitive epithelial sodium channel alpha, beta, and gamma subunit genes, Scnn1a, Scnn1b, and Scnn1g, and the thiazide-sensitive sodium chloride cotransporter gene, Slc12a1, have been mapped in the mouse using an ..
  49. Srichai M, Colleta H, Gewin L, Matrisian L, Abel T, Koshikawa N, et al. Membrane-type 4 matrix metalloproteinase (MT4-MMP) modulates water homeostasis in mice. PLoS ONE. 2011;6:e17099 pubmed publisher
    ..Thus, our results show that although MT4-MMP is expressed in the kidney, this metalloproteinase does not play a major role in renal development or function; however it does appear to modify the neural stimuli that modulate thirst. ..
  50. Pietilä I, Ellwanger K, Railo A, Jokela T, Barrantes I, Shan J, et al. Secreted Wnt antagonist Dickkopf-1 controls kidney papilla development coordinated by Wnt-7b signalling. Dev Biol. 2011;353:50-60 pubmed publisher
    ..Since Pax8Cre-induced Dkk1 deficiency reduced marker gene expression, Scnn1b in the collecting duct and Slc12a1 in the loop of Henle, these results together with the extended papilla ..
  51. Drummond H, Grifoni S, Abu Zaid A, Gousset M, Chiposi R, Barnard J, et al. Renal inflammation and elevated blood pressure in a mouse model of reduced {beta}-ENaC. Am J Physiol Renal Physiol. 2011;301:F443-9 pubmed publisher
    ..105 ± 2 mmHg, P = 0.016). Our findings suggest loss of ?-ENaC is associated with early signs of renal injury and increased MAP. ..
  52. Shi S, Kleyman T. Gamma subunit second transmembrane domain contributes to epithelial sodium channel gating and amiloride block. Am J Physiol Renal Physiol. 2013;305:F1585-92 pubmed publisher
    ..In summary, we have identified novel pore-lining residues of the ?-subunit of ENaC that are important for proper channel gating and its interaction with amiloride. ..
  53. Yu D, Saini Y, Chen G, Ghio A, Dang H, Burns K, et al. Loss of ? Epithelial Sodium Channel Function in Meibomian Glands Produces Pseudohypoaldosteronism 1-Like Ocular Disease in Mice. Am J Pathol. 2018;188:95-110 pubmed publisher
    ..Loss of ?ENaC function resulted in MG disease and severe ocular surface damage that phenocopied aspects of human pseudohypoaldosteronism-1 MG disease and was sex dependent. ..
  54. Shi S, Carattino M, Kleyman T. Role of the wrist domain in the response of the epithelial sodium channel to external stimuli. J Biol Chem. 2012;287:44027-35 pubmed publisher
    ..Mutants that exhibited reduced inhibition by external Na(+) also showed an enhanced response to shear stress. Together, our data suggest that the wrist domain has a role in modulating the channel's response to external stimuli...
  55. Zhou Z, Duerr J, Johannesson B, Schubert S, Treis D, Harm M, et al. The ENaC-overexpressing mouse as a model of cystic fibrosis lung disease. J Cyst Fibros. 2011;10 Suppl 2:S172-82 pubmed publisher
    ..Here, we summarize approaches that can be applied for studies of the complex in vivo pathogenesis and preclinical evaluation of novel therapeutic strategies in this model of CF lung disease. ..
  56. Bertog M, Cuffe J, Pradervand S, Hummler E, Hartner A, Porst M, et al. Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome. J Physiol. 2008;586:459-75 pubmed
    ..Aldosterone-induced transcriptional up-regulation of the channel's beta- and gamma-subunit (beta ENaC and gamma ENaC) and of the serum- and glucocorticoid-inducible kinase 1 (SGK1) was similar in colon tissue from ..
  57. Ge Y, GANNON K, Gousset M, Liu R, Murphey B, Drummond H. Impaired myogenic constriction of the renal afferent arteriole in a mouse model of reduced ?ENaC expression. Am J Physiol Renal Physiol. 2012;302:F1486-93 pubmed publisher
    ..These findings demonstrate that myogenic constriction in afferent arterioles is dependent on normal expression of ?ENaC. ..
  58. Grifoni S, Chiposi R, McKey S, Ryan M, Drummond H. Altered whole kidney blood flow autoregulation in a mouse model of reduced beta-ENaC. Am J Physiol Renal Physiol. 2010;298:F285-92 pubmed publisher
    ..Our findings suggest beta-ENaC is an important mediator of renal myogenic constriction-mediated RBF autoregulation in vivo. ..
  59. Jernigan N, Drummond H. Myogenic vasoconstriction in mouse renal interlobar arteries: role of endogenous beta and gammaENaC. Am J Physiol Renal Physiol. 2006;291:F1184-91 pubmed
    ..Our results provide the first direct evidence that beta and gammaENaC proteins are essential in mediating myogenic vasoconstriction in mouse renal interlobar arteries. ..
  60. Tsang L, Chan L, Chan H. Altered cyclic expression of epithelial Na+ channel subunits and cystic fibrosis transmembrane conductance regulator in mouse endometrium by a low sodium diet. Cell Biol Int. 2004;28:549-55 pubmed
    ..The altered cyclic expression of uterine ENaC and CFTR by a low sodium diet suggests that these ion channels may be affected by elevated circulating aldosterone, which may disrupt reproductive events in the uterus. ..
  61. Zhou Z, Treis D, Schubert S, Harm M, Schatterny J, Hirtz S, et al. Preventive but not late amiloride therapy reduces morbidity and mortality of lung disease in betaENaC-overexpressing mice. Am J Respir Crit Care Med. 2008;178:1245-56 pubmed publisher
    ..These results suggest that amiloride therapy may be an effective preventive therapy for patients with CF if initiated early in life before the onset of lung disease. ..
  62. Li K, Guo D, Zhu H, Hering Smith K, Hamm L, Ouyang J, et al. Interleukin-6 stimulates epithelial sodium channels in mouse cortical collecting duct cells. Am J Physiol Regul Integr Comp Physiol. 2010;299:R590-5 pubmed publisher
    ..6 +/- 0.2 to 4.9 +/- 0.2 muA/cm(2) (P < 0.01). This study has identified a novel function of IL-6, namely, IL-6 may activate ENaC. Therefore, renal inflammation mediated by IL-6 likely contributes to impaired pressure natriuresis. ..
  63. Sugiyama F, Churchill G, Li R, Libby L, Carver T, Yagami K, et al. QTL associated with blood pressure, heart rate, and heart weight in CBA/CaJ and BALB/cJ mice. Physiol Genomics. 2002;10:5-12 pubmed
    ..Identification of the genes for these QTL should lead to a better understanding of the causes of essential hypertension. ..
  64. Boase N, Rychkov G, Townley S, Dinudom A, Candi E, Voss A, et al. Respiratory distress and perinatal lethality in Nedd4-2-deficient mice. Nat Commun. 2011;2:287 pubmed publisher
    ..Thus, we provide critical in vivo evidence that Nedd4-2 is essential for correct regulation of ENaC expression, fetal and postnatal lung function and animal survival. ..
  65. Sanchez Perez A, Kumar S, Cook D. GRK2 interacts with and phosphorylates Nedd4 and Nedd4-2. Biochem Biophys Res Commun. 2007;359:611-5 pubmed
    ..Of possible significance is the phosphorylation of the threonine at position 466 in Nedd4, which is located in the area of the ww3 domain that binds ENaC. These results support and extend the role of GRK2 in sodium transport regulation. ..
  66. Edinger R, Bertrand C, Rondandino C, Apodaca G, Johnson J, Butterworth M. The epithelial sodium channel (ENaC) establishes a trafficking vesicle pool responsible for its regulation. PLoS ONE. 2012;7:e46593 pubmed publisher
    ..These findings indicate that ENaC is not a passive passenger in regulated epithelial vesicle trafficking, but plays a role in establishing and maintaining the pool of vesicles that respond to cAMP stimulation...