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Publications of the Eugindat Project

First Period (March 1^st 2004- August 31^st 2005)

• Palacin M, Nunes V, Font-Llitjos M, Jimenez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadalo L, Chillaron J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda). 20:112-24, 2005. (Partners 1 and 3)
• Verrey F, Ristic Z, Romeo E, Ramadan T, Makrides V, Dave MH, Wagner CA, Camargo SM. Novel renal amino acid transporters. Annu Rev Physiol. 67:557-72, 2005. (Partners 10a and 10).
• Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet. 2005 Jan;42(1):58-68. (Partners 3, 1 and 16).
• Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat. 25:410, 2005. (Partner 5).
• Fernandez E, Torrents D, Zorzano A, Palacin M, Chillaron J. Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolution. J. Biol Chem. 280:19364-72, 2005. (Partner 1).
• Ristic Z, Camargo SMR, Romeo E, Bodoy S, Bertran J, Palacin M, MakridesV, Furrer EM and Verrey F. Neutral amino acid transport mediated by ortholog of imino acid transporter SIT1/Slc6a20 in opossum kidney cells. Am. J. Physiol-Renal Physiol. 290:F880-7, 2006. (Partner 10a and 1).
• Bodoy S, Martin L, Zorzano A, Palacin M, Estevez R, Bertran J. Identification of LAT4, a novel amino acid transporter with system L activity. J Biol Chem. 280:12002-11, 2005. (Partner 1).
• Romeo E, Dave MH, Bacic D, Ristic Z, Camargo SM, Loffing J, Wagner CA, Verrey F. Luminal kidney and intestine SLC6 amino acid transporters of B0AT-cluster and their tissue distribution in Mus musculus. Am J Physiol Renal Physiol. 290: F376-83, 2006. (Partners 10 and 10a).
• Camargo SM, Makrides V, Virkki LV, Forster IC, Verrey F. Steady-state kinetic characterization of the mouse B0AT1 sodium-dependent neutral amino acid transporter. Pflugers Arch. 451:338-48, 2005 (Partner 10a).
• Ramadan T, Camargo SMR, Summa V, Hunziker P, Chesnov S, Pos KM, Verrey F. Basolateral aromatic amino acid transporter TAT1 (Slc16a10) functions as an efflux pathway. J Cell Physiol. 206:771-9, 2006. (Partner 10a).
• Bohmer C, Broer A, Munzinger M, Kowalczuk S, Rasko JE, Lang F, Broer S. Characterization of mouse amino acid transporter B0AT1 (Slc6a19). Biochem. J. 389: 745-751, 2005. (Partner 12).
• Kirchhoff P, Dave MH, Remy C, Kosiek O, Busque SM, Dufner M, Geibel JP, Verrey F, Wagner CA. An amino acid transporter involved in gastric acid secretion. Pflügers Arch 451: 738-48, 2006. (Partners 10 and 10a).
• Sperandeo MP, Paladino S, Maiuri L, Maroupulos GD, Zurzolo C, Taglialatela M, Andria G, Sebastio G. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. Eur J Hum Genet. 13:628-34, 2005. (Partner 5)
• L Tanner, Näntö-Salonen K, Niinikoski H, Erkkola R, Huoponen K and Simell O. Hazards associated with pregnancies and deliveries in lysinuric protein intolerance. Metabolism 55:224-31, 2006 (Partners 8 and 8a).

Second Period (September 1st 2005- August 31st 2007)

• Yeramian A, Martin L, Serrat N, Arpa L, Soler C, Bertran J, McLeod C, Palacin M, Modolell M, Lloberas J, Celada A. Arginine transport via cationic amino acid transporter 2 plays a critical regulatory role in classical or alternative activation of macrophages. J Immunol. 176:5918-24, 2006. (Partner 1).
• Martin L, Comalada M, Marti L, Closs EI, MacLeod CL, Martin del Rio R, Zorzano A, Modolell M, Celada A, Palacin M, Bertran J. Granulocyte-macrophage colony-stimulating factor increases L-arginine transport through the induction of CAT2 in bone marrow-derived macrophages. Am J Physiol Cell Physiol. 290C1364-72, 2006. (Partner 1).
• Yeramian A, Martin L, Arpa L, Bertran J, Soler C, McLeod C, Modolell M, Palacin M, Lloberas J, Celada A. Macrophages require distinct arginine catabolism and transport systems for proliferation and for activation. Eur J Immunol. 36: 1516-26, 2006. (Partner 1).
• Fernandez E, Jimenez-Vidal M, Calvo M, Zorzano A, Tebar F, Palacin M, Chillaron J. The structural and functional units of heteromeric amino acid transporters. The heavy subunit rBAT dictates oligomerization of the heteromeric amino acid transporters. J Biol Chem. 281:26552-61, 2006. (Partner 1).
• Reig N, del Rio C, Casagrande F, Ratera M, Gelpi JL, Torrents D, Henderson PJ, Xie H, Baldwin SA, Zorzano A, Fotiadis D, Palacin M. Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transporters. J Biol Chem. 282:13270-81, 2007. (Partners 1 and 6).
• Font-Llitjos M, Feliubadalo L, Espino M, Cleries R, Manas S, Frey IM, Puertas S, Colell G, Palomo S, Aranda J, Visa J, Palacin M, Nunes V. Slc7a9 knockout mouse is a good cystinuria model for anti-lithiasic pharmacological studies. Am J Physiol Renal Physiol. 293:F732-40, 2007. (Partners 3 and 1).
• Fort J, de la Ballina LR, Burghardt HE, Ferrer-Costa C, Turnay J, Ferrer-Orta C, Uson I, Zorzano A, Fernandez-Recio J, Orozco M, Lizarbe MA, Fita I, Palacin M. The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membrane. J Biol Chem. 2007 Aug 26; [Epub ahead of print] PMID: 17724034 (Partners 1 and 1a).
• Frey IM, Rubio-Aliaga I, Klempt M, Wolf E, Daniel H. Phenotype analysis of mice deficient in the peptide transporter PEPT2 in response to alterations in dietary protein intake. Pflugers Arch. 452:300-6, 2006. (Partner 2).
• Weitz D, Harder D, Casagrande F, Fotiadis D, Obrdlik P, Kelety B, Daniel H. Functional and structural characterization of a prokaryotic peptide transporter with features similar to mammalian PEPT1. J Biol Chem. 282:2832-9, 2007. (Partners 2 and 6).
• Frey IM, Rubio-Aliaga I, Siewert A, Sailer D, Drobyshev A, Beckers J, de Angelis MH, Aubert J, Bar Hen A, Fiehn O, Eichinger HM, Daniel H. Profiling at mRNA, protein, and metabolite levels reveals alterations in renal amino acid handling and glutathione metabolism in kidney tissue of Pept2-/- mice. Physiol Genomics. 28:301-10, 2007. (Partner 2).
• Sperandeo MP, Annunziata P, Bozzato A, Piccolo P, Maiuri L, D'Armiento M, Ballabio A, Corso G, Andria G, Borsani G, Sebastio G. Slc7a7 disruption causes fetal growth retardation by down-regulating Igf1 in the mouse model of lysinuric protein intolerance. Am J Physiol Cell Physiol. 293:C191-8, 2007. (Partners 5 and 11).
• Sebastio G, Fecarotta S, Sperandeo MP.Lysinuric Protein Intolerance. GeneReviews. 2006. http://www.geneclinics.org/ Funded by theNational Institutes of Health, USA. (Partner 5).
• Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2007 Aug 31; [Epub ahead of print] PMID: 17764084. (Partner 5).
• Rosental N, Bendahan A, Kanner BI. Multiple consequences of mutating two conserved beta-bridge forming residues in the translocation cycle of a neuronal glutamate transporter. J Biol Chem. 281:27905-15, 2006. (Partner 7).
• Shlaifer I, Kanner BI. Conformationally sensitive reactivity to permeant sulfhydryl reagents of cysteine residues engineered into helical hairpin 1 of the glutamate transporter GLT-1. Mol Pharmacol. 71:1341-8, 2007. (Partner 7).
• Teichman S, Kanner BI. Aspartate-444 is essential for productive substrate interactions in a neuronal glutamate transporter. J Gen Physiol. 129:527-39, 2007. (Partner 7).
• Tanner LM, Nanto-Salonen K, Niinikoski H, Huoponen K, Simell O. Long-term oral lysine supplementation in lysinuric protein intolerance. Metabolism. 56:185-9, 2007. (Partners 8a and 8).
• Puomila K, Simell O, Huoponen K, Mykkanen J. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. Mol Genet Metab. 90:298-306, 2007. (Partners 8 and 8a).
• Kleemola M, Toivonen M, Mykkanen J, Simell O, Huoponen K, Heiskanen KM. Heterodimerization of y(+)LAT-1 and 4F2hc visualized by acceptor photobleaching FRET microscopy. Biochim Biophys Acta. 2007 May 3; [Epub ahead of print] PMID: 17560897 . (Partners 8 and 8a).
• Tanner LM, Nanto-Salonen K, Venetoklis J, Kotilainen S, Niinikoski H, Huoponen K, Simell O. Nutrient intake in lysinuric protein intolerance. J Inherit Metab Dis. 2007 Jun 21; [Epub ahead of print] PMID: 17588131. (Partner 8a and 8).
• Tanner LM, Nanto-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helantera A, Metso M, Linnanvuo M, Huoponen K, Simell O. Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance. J Pediatr. 150:631-4, 634.e1, 2007. (Partner 8a and 8).
• Rexhepaj R, Grahammer F, Volkl H, Remy C, Wagner CA, Sandulache D, Artunc F, Henke G, Nammi S, Capasso G, Alessi DR, Lang F. Reduced intestinal and renal amino acid transport in PDK1 hypomorphic mice. FASEB J. 20:2214-22, 2006. (Partners 12 and 10).
• Danilczyk U, Sarao R, Remy C, Benabbas C, Stange G, Richter A, Arya S, Pospisilik JA, Singer D, Camargo SM, Makrides V, Ramadan T, Verrey F, Wagner CA, Penninger JM. Essential role for collectrin in renal amino acid transport. Nature. 444:1088-91, 2006. (Partners 10 and 10a).
• Moret C, Dave MH, Schulz N, Jiang JX, Verrey F, Wagner CA. Regulation of renal amino acid transporters during metabolic acidosis. Am J Physiol Renal Physiol. 292:F555-66, 2006. (Partners 10 and 10a).
• Ramadan T, Camargo SM, Herzog B, Bordin M, Pos KM, Verrey F. Recycling of aromatic amino acids via TAT1 allows efflux of neutral amino acids via LAT2-4F2hc exchanger. Pflugers Arch. 454:507-16, 2007. (Partner 10a).
• Dello Strologo L, Rizzoni G. Cystinuria. Acta Paediatr Suppl. 95:31-3, 2006. (Partner 13).
• Dello Strologo L, Laurenzi C, Legato A, Pastore A. Cystinuria in children and young adults: success of monitoring free-cystine urine levels. Pediatr Nephrol. 22:1869-1873, 2007. (Partner 13).
• Lotan D, Yoskovitz G, Bisceglia L, Gerad L, Reznik-Wolf H, Pras E. Approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping. Isr Med Assoc J. 9:513-6, 2007 (Partners 17 and 16).