The Iodide Transport Defect - Causing Mutation R 124 H : a 3 δ - amino group at position 124 is critical for maturation 4 and trafficking of the Na + / I - symporter ( NIS )
نویسندگان
چکیده
7 Viktoriya Paroder, Juan P. Nicola, Christopher S. Ginter, 8 and Nancy Carrasco 9 10 a Department of Molecular Pharmacology, Albert Einstein College of Medicine, Bronx, NY 10461. 11 b Department of Cellular and Molecular Physiology, Yale University School of Medicine, New 12 Haven, CT 06510. 13 14 Present addresses: 1 Department of Radiology, Montefiore Medical Center. Bronx, NY 10467. 2 15 Department of Physiology and Biophysics, Weill Cornell Medical School, New York, NY 10065. 16 # These authors contributed equally to this work. 17 * To whom correspondence should be addressed. Department of Cellular and Molecular Physiology, 18 Yale University School of Medicine. 333 Cedar Street. New Haven, CT 06510. Phone: (203) 78519 4117. E-mail: [email protected]. 20 21 Abbreviated title: R124H NIS is intrinsically active. 22
منابع مشابه
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.
Na(+)/I(-) symporter (NIS)-mediated active accumulation of I(-) in thyrocytes is a key step in the biosynthesis of the iodine-containing thyroid hormones T3 and T4. Several NIS mutants have been identified as a cause of congenital I(-) transport defect (ITD), and their investigation has yielded valuable mechanistic information on NIS. Here we report novel findings derived from the thorough char...
متن کاملThe iodide-transport-defect-causing mutation R124H: a d-amino group at position 124 is critical for maturation and trafficking of the Na/I symporter
Na/I symporter (NIS)-mediated active accumulation of I in thyrocytes is a key step in the biosynthesis of the iodine-containing thyroid hormones T3 and T4. Several NIS mutants have been identified as a cause of congenital I 2 transport defect (ITD), and their investigation has yielded valuable mechanistic information on NIS. Here we report novel findings derived from the thorough characterizati...
متن کاملA homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
Iodide transport defect is a disorder characterized by an inability of the thyroid to maintain an iodide concentration difference between the plasma and the thyroid. The recent cloning of the sodium/iodide symporter (NIS) gene enabled us to characterize the NIS gene in this disorder. We identified a homozygous missense mutation of A-->C at nucleotide +1060 in NIS complementary DNA in a male pat...
متن کاملSodium Iodide Symporter for Nuclear Molecular Imaging and Gene Therapy: From Bedside to Bench and Back
Molecular imaging, defined as the visual representation, characterization and quantification of biological processes at the cellular and subcellular levels within intact living organisms, can be obtained by various imaging technologies, including nuclear imaging methods. Imaging of normal thyroid tissue and differentiated thyroid cancer, and treatment of thyroid cancer with radioiodine rely on ...
متن کاملCongenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect
Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH) due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD). Hypothyroidism was detected by neonatal screening and L-thyroxine re...
متن کامل