The sodium/iodide symporter mutant V270E causes stunted growth but no cognitive deficiency

NICOLA, JP; REYNA-NEYRA, A; SAENGER, P; RODRIGUEZ-BURITICA, DF; GAMEZ GODOY, JD; MUZUMDAR, R; AMZEL, LM; CARRASCO, N

ENDOCRINE SOC

Lugar: Washington; Año: 2015 vol. 100 p. 1353 - 1353

!--[if gte mso 9]> Context. Iodide (I-), anessential constituent of the thyroid hormones, is actively accumulated in thethyroid by the Na+/I- symporter (NIS), a key plasmamembrane protein encoded by the slc5a5gene. Mutations in slc5a5 cause I-transport defects (ITDs), autosomal recessive disorders in which I-accumulation is totally or partially impaired, leading to congenitalhypothyroidism. The characterization of NIS mutants has