Journal ArticleDOI
Cystinuria caused by mutations in rBAT , a gene involved in the transport of cystine
Maria Julia Calonge,Paolo Gasparini,Josep Chillarón,Miguel Chillón,Michele Gallucci,Ferran Rousaud,Leopoldo Zelante,Xavier Testar,Bruno Dallapiccola,Franco Di Silverio,Pedro Barceló,Xavier Estivill,Antonio Zorzano,Virginia Nunes,Manuel Palacín +14 more
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TLDR
RBAT is established as a cystinuria gene, which involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine and nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes.Abstract:
Cystinuria is a classic heritable aminoaciduria that involves the defective transepithelial transport of cystine and dibasic amino acids in the kidney and intestine. Six missense mutations in the human rBAT gene, which is involved in high–affinity transport of cystine and dibasic amino acids in kidney and intestine, segregate with cystinuria. These mutations account for 30% of the cystinuria chromosomes studied. Homozygosity for the most common mutation (M467T) was detected in three cystinuric siblings. Mutation M467T nearly abolished the amino acid transport activity induced by rBAT in Xenopus oocytes. These results establish rBAT as a cystinuria gene.read more
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Amino acid transport across mammalian intestinal and renal epithelia.
TL;DR: The identification of most epithelial amino acid transporters over the past 15 years allows the definition of these disorders at the molecular level and provides a clear picture of the functional cooperation between transporter in the apical and basolateral membranes of mammalian epithelial cells.
Journal ArticleDOI
Molecular Biology of Mammalian Plasma Membrane Amino Acid Transporters
TL;DR: The tissue expression, transport characteristics, structure-function relationship, and the putative physiological roles of four amino acid transporters belonging to four protein families are described.
Journal ArticleDOI
Clinical assessment incorporating a personal genome
Euan A. Ashley,Atul J. Butte,Matthew T. Wheeler,Rong Chen,Teri E. Klein,Frederick E. Dewey,Joel T. Dudley,Kelly E. Ormond,Aleksandra Pavlovic,Alexander A. Morgan,Dmitry Pushkarev,Norma F. Neff,Louanne Hudgins,Li Gong,Laura M. Hodges,Dorit S. Berlin,Caroline F. Thorn,Katrin Sangkuhl,Joan M. Hebert,Mark Woon,Hersh Sagreiya,Ryan Whaley,Joshua W. Knowles,Michael F. Chou,Joseph V. Thakuria,Abraham M. Rosenbaum,Alexander Wait Zaranek,George M. Church,Henry T. Greely,Stephen R. Quake,Russ B. Altman +30 more
TL;DR: Although challenges remain, the results suggest that whole-genome sequencing can yield useful and clinically relevant information for individual patients.
Journal ArticleDOI
CATs and HATs: the SLC7 family of amino acid transporters
François Verrey,Ellen I. Closs,Carsten A. Wagner,Manuel Palacín,Hitoshi Endou,Yoshikatsu Kanai +5 more
TL;DR: Members of the CAT family transport essentially cationic amino acids by facilitated diffusion with differential trans-stimulation by intracellular substrates and may regulate the rate of NO synthesis by controlling the uptake of l-arginine as the substrate for nitric oxide synthase (NOS).
Journal ArticleDOI
Transporters for cationic amino acids in animal cells: discovery, structure, and function
R. Devés,C. A. R. Boyd +1 more
TL;DR: The roles of these transporters in nutrition, endocrinology, nitric oxide biology, and immunology, as well as in the genetic diseases cystinuria and lysinuric protein intolerance, are reviewed.
References
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