CALL FOR PAPERS Renal Solute Cotransporters and Exchangers Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b AT (Slc7a9) in mice
نویسندگان
چکیده
Andrea Di Giacopo,* Isabel Rubio-Aliaga,* Alessandra Cantone, Ferruh Artunc, Rexhep Rexhepaj, Isabelle Frey-Wagner, Mariona Font-Llitjós, Nicole Gehring, Gerti Stange, Isabel Jaenecke, Nilufar Mohebbi, Ellen I. Closs, Manuel Palacín, Virginia Nunes, Hannelore Daniel, Florian Lang, Giovambattista Capasso, and Carsten A. Wagner Institute of Physiology-Zürich Center for Integrative Human Physiology (ZIHP), University of Zürich, Zürich, Switzerland; Department of Internal Medicine, Chair of Nephrology, Second University of Naples, Naples, Italy; Department of Physiology, University of Tübingen, Tübingen, Germany; Molecular Nutrition Unit, Technical University of Munich, Freising, Germany; Department of Pharmacology, University Medical Center of the Johannes Gutenberg University, Mainz, Germany; IRB Barcelona, Department of Biochemistry and Molecular Biology, University of Barcelona and U731 CIBERER, Barcelona, Spain; Medical and Molecular Genetics Center, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Spain; Department of Physiological Sciences II, University of Barcelona, Spain; and U730 CIBERER, Barcelona, Spain
منابع مشابه
Necessity of fractionated urine collection for monitoring patients with cystinuria.
Cystinuria is an inherited form of nephrolithiasis caused by mutations in the SLC7A9 [solute carrier family 7 (cationic amino acid transporter, y system), member 9] and SLC3A1 [solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1] genes, which encode the luminal transporter b(0, ) AT subunit and ...
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Transl Androl Urol 2014;3(3):234 www.amepc.org/tau Cystinuria represents a relatively rare hereditary condition leading to impairment of the renal proximal tubule’s dibasic amino acid transporter. The only manifestation of this disease is calculi formation. Unlike other nephrolithiasis disease processes, cystine stone formation is due directly to supersaturation of an insoluble solute precipita...
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Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to nephrolithiasis, due to the precipitation of cystine in urine. Mutations in SLC3A1, which codes for the heavy subunit rBAT, cause cystinuria t...
متن کاملSlc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
Cystinuria is a hereditary disorder caused by a defect in the apical membrane transport system for cystine and dibasic amino acids in renal proximal tubules and intestine, resulting in recurrent urolithiasis. Mutations in SLC3A1 and SLC7A9 genes, that codify for rBAT/b(0,+)AT transporter subunits, cause type A and B cystinuria, respectively. In humans, cystinuria treatment is based on the preve...
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The phosphoinositide-dependent kinase PDK1 activates the serum- and glucocorticoid-inducible kinase isoforms SGK1, SGK2, and SGK3 and protein kinase B, which in turn are known to up-regulate a variety of sodium-coupled transporters. The present study was performed to explore the role of PDK1 in amino acid transport. As mice completely lacking functional PDK1 are not viable, mice expressing 10-2...
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