A mutation of the epithelial sodium channel associated with atypical cystic fibrosis increases channel open probability and reduces Na+ self inhibition.

PubWeight™: 1.01‹?› | Rank: Top 15%

🔗 View Article (PMC 2872728)

Published in J Physiol on March 01, 2010

Authors

Robert Rauh1, Alexei Diakov, Anja Tzschoppe, Judit Korbmacher, Abul Kalam Azad, Harry Cuppens, Jean-Jaques Cassiman, Jörg Dötsch, Heinrich Sticht, Christoph Korbmacher

Author Affiliations

1: Department of Cellular and Molecular Physiology, Friedrich-Alexander University of Erlangen-Nürnberg, Germany.

Articles citing this

Role of epithelial sodium channels and their regulators in hypertension. J Biol Chem (2010) 1.20

Regulation of transport in the connecting tubule and cortical collecting duct. Compr Physiol (2012) 1.16

Atomic force microscopy reveals the architecture of the epithelial sodium channel (ENaC). J Biol Chem (2011) 1.10

Allosteric inhibition of the epithelial Na+ channel through peptide binding at peripheral finger and thumb domains. J Biol Chem (2010) 1.08

Does epithelial sodium channel hyperactivity contribute to cystic fibrosis lung disease? J Physiol (2013) 1.05

Proteolytic activation of the epithelial sodium channel (ENaC) by the cysteine protease cathepsin-S. Pflugers Arch (2012) 0.97

Blood pressure and amiloride-sensitive sodium channels in vascular and renal cells. Nat Rev Nephrol (2014) 0.94

Activation of the epithelial sodium channel (ENaC) by the alkaline protease from Pseudomonas aeruginosa. J Biol Chem (2012) 0.94

Plasmin and chymotrypsin have distinct preferences for channel activating cleavage sites in the γ subunit of the human epithelial sodium channel. J Gen Physiol (2012) 0.90

Insight into DEG/ENaC channel gating from genetics and structure. Physiology (Bethesda) (2012) 0.89

Novel mutation in the epithelial sodium channel causing type I pseudohypoaldosteronism in a patient misdiagnosed with cystic fibrosis. Eur J Pediatr (2012) 0.85

Proteases, cystic fibrosis and the epithelial sodium channel (ENaC). Cell Tissue Res (2012) 0.85

Pharmacological and electrophysiological characterization of the human bile acid-sensitive ion channel (hBASIC). Pflugers Arch (2013) 0.84

Neutrophil Elastase Activates Protease-activated Receptor-2 (PAR2) and Transient Receptor Potential Vanilloid 4 (TRPV4) to Cause Inflammation and Pain. J Biol Chem (2015) 0.84

Gain-of-function variant of the human epithelial sodium channel. Am J Physiol Renal Physiol (2012) 0.84

Na+ inhibits the epithelial Na+ channel by binding to a site in an extracellular acidic cleft. J Biol Chem (2014) 0.83

Proteolytic activation of the human epithelial sodium channel by trypsin IV and trypsin I involves distinct cleavage sites. J Biol Chem (2014) 0.81

Gasotransmitters: novel regulators of epithelial na(+) transport? Front Physiol (2012) 0.81

Gamma subunit second transmembrane domain contributes to epithelial sodium channel gating and amiloride block. Am J Physiol Renal Physiol (2013) 0.78

Sensitisation of TRPV4 by PAR2 is independent of intracellular calcium signalling and can be mediated by the biased agonist neutrophil elastase. Pflugers Arch (2014) 0.78

Functional Roles of Clusters of Hydrophobic and Polar Residues in the Epithelial Na+ Channel Knuckle Domain. J Biol Chem (2015) 0.77

Residues R282 and D341 act as electrostatic gates in the proton-dependent oligopeptide transporter PepT1. J Physiol (2010) 0.76

Gain-of-Function Mutation W493R in the Epithelial Sodium Channel Allosterically Reconfigures Intersubunit Coupling. J Biol Chem (2015) 0.75

Articles cited by this

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22

Reporting ethical matters in the Journal of Physiology: standards and advice. J Physiol (2009) 10.92

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits. Nature (1994) 9.76

Structure of acid-sensing ion channel 1 at 1.9 A resolution and low pH. Nature (2007) 8.04

A new ER trafficking signal regulates the subunit stoichiometry of plasma membrane K(ATP) channels. Neuron (1999) 6.13

Epithelial sodium channels: function, structure, and regulation. Physiol Rev (1997) 5.90

Epithelial sodium channel/degenerin family of ion channels: a variety of functions for a shared structure. Physiol Rev (2002) 5.87

Increased airway epithelial Na+ absorption produces cystic fibrosis-like lung disease in mice. Nat Med (2004) 5.24

Structure and function of the CFTR chloride channel. Physiol Rev (1999) 4.82

Early death due to defective neonatal lung liquid clearance in alpha-ENaC-deficient mice. Nat Genet (1996) 4.15

New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J (2004) 3.87

Pore architecture and ion sites in acid-sensing ion channels and P2X receptors. Nature (2009) 3.37

Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci U S A (1996) 3.37

Epithelial Na+ channels are fully activated by furin- and prostasin-dependent release of an inhibitory peptide from the gamma-subunit. J Biol Chem (2007) 3.09

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Natl Acad Sci U S A (1995) 2.69

ENaC at the cutting edge: regulation of epithelial sodium channels by proteases. J Biol Chem (2009) 2.57

Neutrophil elastase activates near-silent epithelial Na+ channels and increases airway epithelial Na+ transport. Am J Physiol Lung Cell Mol Physiol (2005) 2.21

Serine protease activation of near-silent epithelial Na+ channels. Am J Physiol Cell Physiol (2003) 2.18

Protease modulation of the activity of the epithelial sodium channel expressed in Xenopus oocytes. J Gen Physiol (1998) 2.13

Cystic fibrosis: terminology and diagnostic algorithms. Thorax (2005) 2.08

Activation of the epithelial sodium channel (ENaC) by serine proteases. Annu Rev Physiol (2009) 1.99

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med (1999) 1.81

Molecular cloning and functional expression of a novel amiloride-sensitive Na+ channel. J Biol Chem (1995) 1.80

Proteolytic processing of the epithelial sodium channel gamma subunit has a dominant role in channel activation. J Biol Chem (2008) 1.79

Airway surface liquid volume regulates ENaC by altering the serine protease-protease inhibitor balance: a mechanism for sodium hyperabsorption in cystic fibrosis. J Biol Chem (2006) 1.77

A novel neutrophil elastase inhibitor prevents elastase activation and surface cleavage of the epithelial sodium channel expressed in Xenopus laevis oocytes. J Biol Chem (2006) 1.75

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71

Cystic fibrosis: a disease of vulnerability to airway surface dehydration. Trends Mol Med (2007) 1.67

Preventive but not late amiloride therapy reduces morbidity and mortality of lung disease in betaENaC-overexpressing mice. Am J Respir Crit Care Med (2008) 1.64

A novel pathway of epithelial sodium channel activation involves a serum- and glucocorticoid-inducible kinase consensus motif in the C terminus of the channel's alpha-subunit. J Biol Chem (2004) 1.55

Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. J Clin Invest (1998) 1.45

Na self inhibition of human epithelial Na channel: temperature dependence and effect of extracellular proteases. J Gen Physiol (2002) 1.44

Epithelial sodium channel: mendelian versus essential hypertension. Hypertension (2008) 1.42

Cleavage in the {gamma}-subunit of the epithelial sodium channel (ENaC) plays an important role in the proteolytic activation of near-silent channels. J Physiol (2008) 1.38

Role of proteolysis in the activation of epithelial sodium channels. Curr Opin Nephrol Hypertens (2007) 1.36

Regulation of the epithelial sodium channel by N4WBP5A, a novel Nedd4/Nedd4-2-interacting protein. J Biol Chem (2002) 1.28

Insight toward epithelial Na+ channel mechanism revealed by the acid-sensing ion channel 1 structure. IUBMB Life (2008) 1.25

Trypsin can activate the epithelial sodium channel (ENaC) in microdissected mouse distal nephron. Am J Physiol Renal Physiol (2008) 1.11

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. Hum Mol Genet (2005) 1.08

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet (2006) 1.05

Impact of Nedd4 proteins and serum and glucocorticoid-induced kinases on epithelial Na+ transport in the distal nephron. J Am Soc Nephrol (2005) 1.03

Extracellular Na+ removal attenuates rundown of the epithelial Na+-channel (ENaC) by reducing the rate of channel retrieval. Pflugers Arch (2003) 1.03

The ENaC channel as the primary determinant of two human diseases: Liddle syndrome and pseudohypoaldosteronism. Nephrologie (1996) 1.02

The role of Pre-H2 domains of alpha- and delta-epithelial Na+ channels in ion permeation, conductance, and amiloride sensitivity. J Biol Chem (2003) 0.95

Hormonal regulation of the epithelial sodium channel ENaC: N or P(o)? J Gen Physiol (2002) 0.95

Functional polymorphisms in the alpha-subunit of the human epithelial Na+ channel increase activity. Am J Physiol Renal Physiol (2005) 0.94

The delta-subunit of the epithelial sodium channel (ENaC) enhances channel activity and alters proteolytic ENaC activation. J Biol Chem (2009) 0.92

Trypsin induces Ca(2+)-activated Cl- currents in X. laevis oocytes. FEBS Lett (1994) 0.90

A calcium-activated and nucleotide-sensitive nonselective cation channel in M-1 mouse cortical collecting duct cells. J Membr Biol (1995) 0.90

Structural biology: unexpected opening. Nature (2007) 0.90

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) 0.90

(NDRG2) stimulates amiloride-sensitive Na+ currents in Xenopus laevis oocytes and fisher rat thyroid cells. J Biol Chem (2007) 0.89

Stimulation of the epithelial sodium channel (ENaC) by the serum- and glucocorticoid-inducible kinase (Sgk) involves the PY motifs of the channel but is independent of sodium feedback inhibition. Pflugers Arch (2006) 0.87

Functional characterization of a partial loss-of-function mutation of the epithelial sodium channel (ENaC) associated with atypical cystic fibrosis. Cell Physiol Biochem (2009) 0.86

Sulfonylurea receptors inhibit the epithelial sodium channel (ENaC) by reducing surface expression. Pflugers Arch (2001) 0.81

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis. Cell Physiol Biochem (2007) 0.79

Articles by these authors

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42

Person-to-person transmission of Nipah virus in a Bangladeshi community. Emerg Infect Dis (2007) 3.47

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67

Plasmin in nephrotic urine activates the epithelial sodium channel. J Am Soc Nephrol (2008) 2.57

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. Kidney Int (2011) 2.34

Structural analysis of the protein phosphatase 1 docking motif: molecular description of binding specificities identifies interacting proteins. Chem Biol (2006) 2.08

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet (2008) 2.01

Clinical presentation of nipah virus infection in Bangladesh. Clin Infect Dis (2008) 1.91

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat (2009) 1.71

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71

AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine. J Mol Model (2005) 1.69

Mutations of the cystic fibrosis gene and intermediate sweat chloride levels in children. Am J Respir Crit Care Med (2002) 1.68

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67

Hypothalamic JNK1 and IKKβ activation and impaired early postnatal glucose metabolism after maternal perinatal high-fat feeding. Endocrinology (2011) 1.61

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59

Aldosterone-dependent and -independent regulation of the epithelial sodium channel (ENaC) in mouse distal nephron. Am J Physiol Renal Physiol (2012) 1.58

Preanalytical influences on the measurement of ghrelin. Clin Chem (2002) 1.57

A novel pathway of epithelial sodium channel activation involves a serum- and glucocorticoid-inducible kinase consensus motif in the C terminus of the channel's alpha-subunit. J Biol Chem (2004) 1.55

The interleukin-10 family of cytokines. Trends Immunol (2002) 1.54

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51

Influence of gestational age, cesarean section, and type of feeding on fecal human beta-defensin 2 and tumor necrosis factor-alpha. J Pediatr Gastroenterol Nutr (2010) 1.47

MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat (2014) 1.45

Intrauterine growth restriction leads to a dysregulation of Wilms' tumour supressor gene 1 (WT1) and to early podocyte alterations. Nephrol Dial Transplant (2012) 1.44

Regulated sodium transport in the renal connecting tubule (CNT) via the epithelial sodium channel (ENaC). Pflugers Arch (2009) 1.44

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide. Nucleic Acids Res (2006) 1.43

Changes in 11beta-hydroxysteroid dehydrogenase type 2 expression in a low-protein rat model of intrauterine growth restriction. Nephrol Dial Transplant (2010) 1.40

mTORC2 critically regulates renal potassium handling. J Clin Invest (2016) 1.40

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40

Automated Greulich-Pyle bone age determination in children with chronic kidney disease. Pediatr Nephrol (2015) 1.39

The T-cell lymphokine interleukin-26 targets epithelial cells through the interleukin-20 receptor 1 and interleukin-10 receptor 2 chains. J Biol Chem (2004) 1.38

Cleavage in the {gamma}-subunit of the epithelial sodium channel (ENaC) plays an important role in the proteolytic activation of near-silent channels. J Physiol (2008) 1.38

Change of the course of steroid-dependent nephrotic syndrome after rituximab therapy. Pediatr Nephrol (2004) 1.37

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J (2011) 1.37

The 15q24/25 susceptibility variant for lung cancer and chronic obstructive pulmonary disease is associated with emphysema. Am J Respir Crit Care Med (2009) 1.36

CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol (2007) 1.35

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33

The role of individual Nedd4-2 (KIAA0439) WW domains in binding and regulating epithelial sodium channels. FASEB J (2002) 1.30

Dual selection pressure by drugs and HLA class I-restricted immune responses on human immunodeficiency virus type 1 protease. J Virol (2007) 1.28

Regulation of the epithelial sodium channel by N4WBP5A, a novel Nedd4/Nedd4-2-interacting protein. J Biol Chem (2002) 1.28

Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet (2010) 1.26

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A (2004) 1.26

Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome. Nephrol Dial Transplant (2011) 1.24

The bile acid receptor TGR5 does not interact with β-arrestins or traffic to endosomes but transmits sustained signals from plasma membrane rafts. J Biol Chem (2013) 1.23

Stimulation of the epithelial sodium channel (ENaC) by cAMP involves putative ERK phosphorylation sites in the C termini of the channel's beta- and gamma-subunit. J Biol Chem (2006) 1.22

Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros (2007) 1.21

Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol (2013) 1.17

Structural investigation of the binding of a herpesviral protein to the SH3 domain of tyrosine kinase Lck. Biochemistry (2002) 1.17

B cell repertoire analysis identifies new antigenic domains on glycoprotein B of human cytomegalovirus which are target of neutralizing antibodies. PLoS Pathog (2011) 1.16

Cytomegaloviral proteins that associate with the nuclear lamina: components of a postulated nuclear egress complex. J Gen Virol (2009) 1.16

Estrogen and progesterone receptors: from molecular structures to clinical targets. Cell Mol Life Sci (2009) 1.16

Identification of ghrelin in human saliva: production by the salivary glands and potential role in proliferation of oral keratinocytes. Clin Chem (2005) 1.15

Novel mode of phosphorylation-triggered reorganization of the nuclear lamina during nuclear egress of human cytomegalovirus. J Biol Chem (2010) 1.14

The serum and glucocorticoid-inducible kinase SGK1 and the Na+/H+ exchange regulating factor NHERF2 synergize to stimulate the renal outer medullary K+ channel ROMK1. J Am Soc Nephrol (2002) 1.14

Stimulation of GCMa and syncytin via cAMP mediated PKA signaling in human trophoblastic cells under normoxic and hypoxic conditions. FEBS Lett (2005) 1.13

CD and NMR studies of prion protein (PrP) helix 1. Novel implications for its role in the PrPC-->PrPSc conversion process. J Biol Chem (2003) 1.13

Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet (2011) 1.12

Trypsin can activate the epithelial sodium channel (ENaC) in microdissected mouse distal nephron. Am J Physiol Renal Physiol (2008) 1.11

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics (2009) 1.10

Atomic force microscopy reveals the architecture of the epithelial sodium channel (ENaC). J Biol Chem (2011) 1.10

Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? Eur Respir J (2013) 1.09

Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros (2010) 1.08

High accuracy mutation detection in leukemia on a selected panel of cancer genes. PLoS One (2012) 1.08

A computational strategy for the prediction of functional linear peptide motifs in proteins. Bioinformatics (2007) 1.07

Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A (2009) 1.07

Risk of nosocomial transmission of Nipah virus in a Bangladesh hospital. Infect Control Hosp Epidemiol (2007) 1.06

HIF-prolyl hydroxylases in the rat kidney: physiologic expression patterns and regulation in acute kidney injury. Am J Pathol (2009) 1.06

Basolateral PAR-2 receptors mediate KCl secretion and inhibition of Na+ absorption in the mouse distal colon. J Physiol (2002) 1.05

The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet (2006) 1.05

Novel OCRL1 mutations in patients with the phenotype of Dent disease. Am J Kidney Dis (2006) 1.04

High frequency oscillatory ventilation suppresses inflammatory response in lung tissue and microdissected alveolar macrophages in surfactant depleted piglets. Pediatr Res (2003) 1.03

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat (2011) 1.03

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet J Rare Dis (2014) 1.03

Extracellular Na+ removal attenuates rundown of the epithelial Na+-channel (ENaC) by reducing the rate of channel retrieval. Pflugers Arch (2003) 1.03

De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet (2013) 1.01

Circulating resistin concentrations in children depend on renal function. Nephrol Dial Transplant (2005) 1.00

Differential induction of human beta-defensin expression by periodontal commensals and pathogens in periodontal pocket epithelial cells. J Periodontol (2005) 1.00

Profiling of WDR36 missense variants in German patients with glaucoma. Invest Ophthalmol Vis Sci (2008) 1.00

Analysis of the structure-activity relationship of four herpesviral UL97 subfamily protein kinases reveals partial but not full functional conservation. J Med Chem (2006) 1.00

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet (2004) 1.00

Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat (2008) 1.00

The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions. J Cyst Fibros (2002) 0.99

Additional disruption of the ClC-2 Cl(-) channel does not exacerbate the cystic fibrosis phenotype of cystic fibrosis transmembrane conductance regulator mouse models. J Biol Chem (2004) 0.99

Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. Mol Genet Metab (2008) 0.99

Oral treatment with the d-enantiomeric peptide D3 improves the pathology and behavior of Alzheimer's Disease transgenic mice. ACS Chem Neurosci (2010) 0.98

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing. J Mol Diagn (2012) 0.97

Structural characterization of Lyn-SH3 domain in complex with a herpesviral protein reveals an extended recognition motif that enhances binding affinity. Protein Sci (2005) 0.97

Genomic copy number determines functional expression of {beta}-defensin 2 in airway epithelial cells and associates with chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2010) 0.97

Altered 24-hour blood pressure profiles in children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 0.97

Proteolytic activation of the epithelial sodium channel (ENaC) by the cysteine protease cathepsin-S. Pflugers Arch (2012) 0.97

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons. Hum Mol Genet (2013) 0.96

Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels. Am J Physiol Cell Physiol (2002) 0.96

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet (2013) 0.96

Recognition of T-rich single-stranded DNA by the cold shock protein Bs-CspB in solution. Nucleic Acids Res (2006) 0.96

Binding, domain orientation, and dynamics of the Lck SH3-SH2 domain pair and comparison with other Src-family kinases. Biochemistry (2005) 0.95

Cholesterol depletion of the plasma membrane prevents activation of the epithelial sodium channel (ENaC) by SGK1. Cell Physiol Biochem (2009) 0.94