ArticleEndocrinology2008
Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.
Article in Endocrinology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- American Thyroid Association Guide to investigating thyroid hormone economy and action in rodent and cell models.Thyroid : official journal of the American Thyroid Association · 2014Guideline
- New Insights into Iodide Transport Defects (ITDs) from the Characterization of a Heterozygous NIS Missense Variant (p.G288S) Identified in a Family with Thyroid Dysfunction During Pregnancy.International journal of molecular sciences · 2026Article
- Preventive Effect of Molecular Iodine in Pancreatic Disorders from Hypothyroid Rabbits.International journal of molecular sciences · 2023Article
- The Iodide Transport Defect-Causing Y348D Mutation in the NaThyroid : official journal of the American Thyroid Association · 2021Article
- Novel Compound Heterozygous Pathogenic Mutations ofFrontiers in endocrinology · 2021Article
- The paradoxical lean phenotype of hypothyroid mice is marked by increased adaptive thermogenesis in the skeletal muscle.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Review
- Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS).Journal of chemical information and modeling · 2020Article
- An extremely high dietary iodide supply forestalls severe hypothyroidism in NaScientific reports · 2017Article
- Defects of Thyroid Hormone Synthesis and Action.Endocrinology and metabolism clinics of North America · 2017Review
- The Sodium/Iodide Symporter (NIS): Molecular Physiology and Preclinical and Clinical Applications.Annual review of physiology · 2017Review
- Na+ coordination at the Na2 site of the Na+/I- symporter.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.The Journal of clinical endocrinology and metabolism · 2015Article
- The Na+/I- symporter (NIS): mechanism and medical impact.Endocrine reviews · 2014Review
- Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2013Article
- The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.Journal of cell science · 2013Article
- Mechanism of anion selectivity and stoichiometry of the Na+/I- symporter (NIS).Proceedings of the National Academy of Sciences of the United States of America · 2011Article
- Conserved tyrosine in the first transmembrane segment of solute:sodium symporters is involved in Na+-coupled substrate co-transport.The Journal of biological chemistry · 2011Article
- Conserved charged amino acid residues in the extracellular region of sodium/iodide symporter are critical for iodide transport activity.Journal of biomedical science · 2010Article
- The crystal structure of a sodium galactose transporter reveals mechanistic insights into Na+/sugar symport.Science (New York, N.Y.) · 2008Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
I(-) is actively transported into thyrocytes via the Na+/I(-) symporter (NIS), a key glycoprotein located on the basolateral plasma membrane. The cDNA encoding rat NIS was identified in our laboratory, where an extensive structure/function characterization of NIS is being conducted. Several NIS mutants have been identified as causes of congenital I(-) transport defect (ITD), including V59E NIS. ITD is characterized by low thyroid I(-) uptake, low saliva/plasma I(-) ratio, hypothyroidism, and goiter and may cause mental retardation if untreated. Studies of other ITD-causing NIS mutants have revealed valuable information regarding NIS structure/function. V59E NIS was reported to exhibit as much as 30% of the activity of wild-type NIS. However, this observation was at variance with the patients' phenotype of total lack of activity. We have thoroughly characterized V59E NIS and studied several amino acid substitutions at position 59. We demonstrated that, in contrast to the previous report, V59E NIS is inactive, although it is properly targeted to the plasma membrane. Glu and all other charged amino acids or Pro at position 59 also yielded nonfunctional NIS proteins. However, I(-) uptake was rescued to different degrees by the other substitutions. Although the Km values for Na+ and I(-) were not altered in these active mutants, we found that the structural requirement for NIS function at position 59 is a neutral, helix-promoting amino acid. This result suggests that the region that contains V59 may be involved in intramembrane helix-helix interactions during the transport cycle without being in direct contact with the substrates.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.