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Increased numbers of epithelial sodium channels at the cell surface in Liddle syndrome. Mutations causing Liddle syndrome result in markedly increased
numbers of channels at the cell surface, owing to a prolonged half-life of channels at the cell surface. Dominant-negative dynamin mutations result in
phenocopies of Liddle syndrome, as do dominant-negative mutations of Nedd-4. Given the known role of dynamin in endocytosis via clathrin-coated pits
and the known role of sequences related to the TPPPXY motif in this process, the data are consistent with the normal channel being cleared from the cell
surface via this process, and Liddle syndrome resulting from failure of this normal clearance mechanism.
Source: The Inherited Basis of Blood Pressure Variation and Hypertension, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular
Bases of Inherited Disease; 2014 Available at: http://mhmedical.com/ Accessed: August 03, 2017
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