Artículos de revistas
Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
Fecha
2015-10-01Registro en:
Nicola, Juan Pablo; Reyna Neyra, Andrea; Saenger, Paul; Rodriguez Buritica, David F.; Gamez Godoy, José David; et al.; Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency; Endocrine Society; Journal of Clinical Endocrinology and Metabolism; 100; 10; 1-10-2015; E1353-E1361
0021-972X
1945-7197
CONICET Digital
CONICET
Autor
Nicola, Juan Pablo
Reyna Neyra, Andrea
Saenger, Paul
Rodriguez Buritica, David F.
Gamez Godoy, José David
Muzumdar, Radhika
Amzel, Mario
Carrasco, Nancy
Resumen
Iodide (I−), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na+/I− symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I− transport defects (ITDs), autosomal-recessive disorders in which I− accumulation is totally or partially impaired, leading to congenital hypothyroidism. The characterization of NIS mutants has yielded significant insights into the molecular mechanism of NIS.