Artículo

Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency

Nicola, Juan PabloIcon ; Reyna Neyra, Andrea; Saenger, Paul; Rodriguez Buritica, David F.; Gamez Godoy, José David; Muzumdar, Radhika; Amzel, Mario; Carrasco, Nancy
Fecha de publicación: 01/10/2015
Editorial: Endocrine Society
Revista: Journal of Clinical Endocrinology and Metabolism
ISSN: 0021-972X
e-ISSN: 1945-7197
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

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.
Palabras clave: Iodide Transport Defect , Congenital Hypothyroidism , Sodium/Iodide Symporter , Plasma Membrane Targeting
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/46107
URL: https://academic.oup.com/jcem/article/100/10/E1353/2835757
DOI: http://dx.doi.org/10.1210/jc.2015-1824
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Articulos(CIBICI)
Articulos de CENTRO DE INV.EN BIOQUI.CLINICA E INMUNOLOGIA
Citación
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
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