A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity - Test2 - elhamkhani - TriplyDB

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

http://www.wikidata.org/entity/Q24564608

about

Nedd4-2 and the regulation of epithelial sodium transport Role of the UPS in Liddle syndrome Human Nedd4 interacts with the human epithelial Na+ channel: WW3 but not WW1 binds to Na+-channel subunits The Nedd4-like protein KIAA0439 is a potential regulator of the epithelial sodium channel Identification of Murr1 as a regulator of the human delta epithelial sodium channel The C2 domain of the ubiquitin protein ligase Nedd4 mediates Ca2+-dependent plasma membrane localization Regulation of stability and function of the epithelial Na+ channel (ENaC) by ubiquitination.Phosphorylation of Nedd4-2 by Sgk1 regulates epithelial Na(+) channel cell surface expression Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome Nedd4 mediates control of an epithelial Na+ channel in salivary duct cells by cytosolic Na+Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension The renal channelopathies Epithelial Na(+) channel regulation by cytoplasmic and extracellular factors Inhibition of ENaC by endothelin-1 All three WW domains of murine Nedd4 are involved in the regulation of epithelial sodium channels by intracellular Na+Raised urinary glucocorticoid and adrenal androgen precursors in the urine of young hypertensive patients: possible evidence for partial glucocorticoid resistance Regulation of the epithelial sodium channel by N4WBP5A, a novel Nedd4/Nedd4-2-interacting protein Immunolocalization of the ubiquitin-protein ligase Nedd4 in tissues expressing the epithelial Na+ channel (ENaC)Bradykinin acutely inhibits activity of the epithelial Na+ channel in mammalian aldosterone-sensitive distal nephron.A human polymorphism affects NEDD4L subcellular targeting by leading to two isoforms that contain or lack a C2 domain Convergent evolution with combinatorial peptides.Mice heterozygous for beta-ENaC deletion have defective potassium excretion.Genes and hypertension: where we are and where we should go.DEG/ENaC channels: a touchy superfamily that watches its salt.Functional domains within the degenerin/epithelial sodium channel (Deg/ENaC) superfamily of ion channels.Targeting of membrane transporters in renal epithelia: when cell biology meets physiology.Cytochalasin E alters the cytoskeleton and decreases ENaC activity in Xenopus 2F3 cells.Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.Point mutations in alpha bENaC regulate channel gating, ion selectivity, and sensitivity to amiloride.Genetic variation in CYP4A11 and blood pressure response to mineralocorticoid receptor antagonism or ENaC inhibition: an exploratory pilot study in African Americans.The genetics of essential hypertension.Gating of amiloride-sensitive Na(+) channels: subunit-subunit interactions and inhibition by the cystic fibrosis transmembrane conductance regulator.Proteolytic activation of the epithelial sodium channel and therapeutic application of a serine protease inhibitor for the treatment of salt-sensitive hypertension.Ion channel associated diseases: overview of molecular mechanisms ERp29 regulates epithelial sodium channel functional expression by promoting channel cleavage.The loss of taste genes in cetaceans Liddle syndrome: clinical and genetic profiles.Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome.

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P2860

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity

http://www.wikidata.org/entity/Q24564608

description

1995 nî lūn-bûn

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Protein modules and signalling networks

Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

Epithelial sodium channel related to proteins involved in neurodegeneration

Proline-rich sequences that bind to Src homology 3 domains with individual specificities

The 1993-94 Généthon human genetic linkage map

Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome

Membrane topology of the epithelial sodium channel in intact cells

An SH3 binding region in the epithelial Na+ channel (alpha rENaC) mediates its localization at the apical membrane

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arterial hypertension

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