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

Autores
Nicola, Juan Pablo; Reyna Neyra, Andrea; Saenger, Paul; Rodriguez Buritica, David F.; Gamez Godoy, José David; Muzumdar, Radhika; Amzel, Mario; Carrasco, Nancy
Año de publicación
2015
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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.
Fil: Nicola, Juan Pablo. University of Yale. School of Medicine; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina
Fil: Reyna Neyra, Andrea. University of Yale. School of Medicine; Estados Unidos
Fil: Saenger, Paul. Winthrop University; Estados Unidos
Fil: Rodriguez Buritica, David F.. Winthrop University; Estados Unidos
Fil: Gamez Godoy, José David. Winthrop University; Estados Unidos
Fil: Muzumdar, Radhika. Albert Einstein College Of Medicine; Estados Unidos
Fil: Amzel, Mario. University Johns Hopkins. Dept.of Chemistry; Estados Unidos
Fil: Carrasco, Nancy. University of Yale. School of Medicine; Estados Unidos
Materia
Iodide Transport Defect
Congenital Hypothyroidism
Sodium/Iodide Symporter
Plasma Membrane Targeting
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/46107
Acceder
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network_name_str CONICET Digital (CONICET)
spelling Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiencyNicola, Juan PabloReyna Neyra, AndreaSaenger, PaulRodriguez Buritica, David F.Gamez Godoy, José DavidMuzumdar, RadhikaAmzel, MarioCarrasco, NancyIodide Transport DefectCongenital HypothyroidismSodium/Iodide SymporterPlasma Membrane Targetinghttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Iodide (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.Fil: Nicola, Juan Pablo. University of Yale. School of Medicine; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; ArgentinaFil: Reyna Neyra, Andrea. University of Yale. School of Medicine; Estados UnidosFil: Saenger, Paul. Winthrop University; Estados UnidosFil: Rodriguez Buritica, David F.. Winthrop University; Estados UnidosFil: Gamez Godoy, José David. Winthrop University; Estados UnidosFil: Muzumdar, Radhika. Albert Einstein College Of Medicine; Estados UnidosFil: Amzel, Mario. University Johns Hopkins. Dept.of Chemistry; Estados UnidosFil: Carrasco, Nancy. University of Yale. School of Medicine; Estados UnidosEndocrine Society2015-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/46107Nicola, 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-E13610021-972X1945-7197CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/100/10/E1353/2835757info:eu-repo/semantics/altIdentifier/doi/10.1210/jc.2015-1824info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:01:52Zoai:ri.conicet.gov.ar:11336/46107instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:01:52.934CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
title Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
spellingShingle Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
Nicola, Juan Pablo
Iodide Transport Defect
Congenital Hypothyroidism
Sodium/Iodide Symporter
Plasma Membrane Targeting
title_short Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
title_full Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
title_fullStr Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
title_full_unstemmed Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
title_sort Sodium/iodide Symporter Mutant V270E causes stunted growth but no cognitive deficiency
dc.creator.none.fl_str_mv Nicola, Juan Pablo
Reyna Neyra, Andrea
Saenger, Paul
Rodriguez Buritica, David F.
Gamez Godoy, José David
Muzumdar, Radhika
Amzel, Mario
Carrasco, Nancy
author Nicola, Juan Pablo
author_facet Nicola, Juan Pablo
Reyna Neyra, Andrea
Saenger, Paul
Rodriguez Buritica, David F.
Gamez Godoy, José David
Muzumdar, Radhika
Amzel, Mario
Carrasco, Nancy
author_role author
author2 Reyna Neyra, Andrea
Saenger, Paul
Rodriguez Buritica, David F.
Gamez Godoy, José David
Muzumdar, Radhika
Amzel, Mario
Carrasco, Nancy
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Iodide Transport Defect
Congenital Hypothyroidism
Sodium/Iodide Symporter
Plasma Membrane Targeting
topic Iodide Transport Defect
Congenital Hypothyroidism
Sodium/Iodide Symporter
Plasma Membrane Targeting
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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.
Fil: Nicola, Juan Pablo. University of Yale. School of Medicine; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina
Fil: Reyna Neyra, Andrea. University of Yale. School of Medicine; Estados Unidos
Fil: Saenger, Paul. Winthrop University; Estados Unidos
Fil: Rodriguez Buritica, David F.. Winthrop University; Estados Unidos
Fil: Gamez Godoy, José David. Winthrop University; Estados Unidos
Fil: Muzumdar, Radhika. Albert Einstein College Of Medicine; Estados Unidos
Fil: Amzel, Mario. University Johns Hopkins. Dept.of Chemistry; Estados Unidos
Fil: Carrasco, Nancy. University of Yale. School of Medicine; Estados Unidos
description 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.
publishDate 2015
dc.date.none.fl_str_mv 2015-10-01
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/46107
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
url http://hdl.handle.net/11336/46107
identifier_str_mv 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
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/100/10/E1353/2835757
info:eu-repo/semantics/altIdentifier/doi/10.1210/jc.2015-1824
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Endocrine Society
publisher.none.fl_str_mv Endocrine Society
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269723352367104
score 13.13397

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