Research Topics
Genomes and Genes
| Manuel PalacinSummaryAffiliation: Universitat de Barcelona Country: Spain Publications
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Detail Information
Publications
Lysinuric protein intolerance: mechanisms of pathophysiologyManuel Palacin
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Parc Cientìfic de Barcelona, Avenidda Diagonal 645, Barcelona 08028, Spain
Mol Genet Metab 81:S27-37. 2004..The pathogenesis of these alterations is less well, or not understood at all...- The ancillary proteins of HATs: SLC3 family of amino acid transportersManuel Palacin
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Parc Cientìfic de Barcelona, Avda Diagonal 645, 08028, Barcelona, Spain
Pflugers Arch 447:490-4. 2004..Studies on two SLC7 members (Asc-2 and AGT1) demonstrate heterodimerization with unknown heavy subunits... - Identification and functional characterization of a novel low affinity aromatic-preferring amino acid transporter (arpAT). One of the few proteins silenced during primate evolutionEsperanza Fernandez
Department of Biochemistry and Molecular Biology, Faculty of Biology, and Barcelona Science Park, University of Barcelona, E 08028 Barcelona, Spain
J Biol Chem 280:19364-72. 2005..The evolutionary implications of the silencing process and the roles of arpAT in transport of L-DOPA in the brain and in aromatic amino acid absorption are discussed... - Evidence for a mitochondrial regulatory pathway defined by peroxisome proliferator-activated receptor-gamma coactivator-1 alpha, estrogen-related receptor-alpha, and mitofusin 2Francesc X Soriano
Institute for Research in Biomedicine IRB, Scientific Park of Barcelona, Departament of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, Barelona, Spain
Diabetes 55:1783-91. 2006..Our results indicate the existence of a regulatory pathway involving PGC-1 alpha, ERR alpha, and Mfn2. Alterations in this regulatory pathway may participate in the pathophysiology of insulin-resistant conditions and type 2 diabetes... - Role of transmembrane domain 8 in substrate selectivity and translocation of SteT, a member of the L-amino acid transporter (LAT) familyPaola Bartoccioni
Institute for Research in Biomedicine, Barcelona 08028, Spain
J Biol Chem 285:28764-76. 2010..Our results suggest that TM8 sculpts the substrate-binding site and undergoes conformational changes during the transport cycle of SteT... - Membrane topology of system xc- light subunit reveals a re-entrant loop with substrate-restricted accessibilityEmma Gasol
Department of Biochemistry and Molecular Biology, Faculty of Biology and Barcelona Science Park, University of Barcelona, Spain
J Biol Chem 279:31228-36. 2004..The data indicate that His(110) may lie close to the substrate binding/permeation pathway of xCT. The membrane topology of xCT could serve as a model for other light subunits of heteromeric amino acid transporters... - Mitochondrial fusion is increased by the nuclear coactivator PGC-1betaMarc Liesa
Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
PLoS ONE 3:e3613. 2008..There is no evidence to date on whether transcriptional regulators are able to shift the balance between mitochondrial fusion and fission events through selective control of gene expression... - Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defectsAnna Duarri
CGMM IDIBELL, L Hospitalet de Llobregat, Barcelona, Spain
Hum Mol Genet 17:3728-39. 2008..Therefore, we suggest the use of pharmacological strategies that improve MLC1 expression to treat MLC patients... - Mitochondrial dynamics as a bridge between mitochondrial dysfunction and insulin resistanceAntonio Zorzano
Institute for Research in Biomedicine, Baldiri Reixac, Barcelona, Spain
Arch Physiol Biochem 115:1-12. 2009..Here, we propose the hypothesis that mitochondrial dynamics proteins play a role in mitochondrial dysfunction in obesity or in type 2 diabetes and that it may also participate in the development of insulin resistance... - The nuclear cofactor DOR regulates autophagy in mammalian and Drosophila cellsCaroline Mauvezin
Institute for Research in Biomedicine IRB Barcelona, C Baldiri Reixac 10, Barcelona 08028, Spain
EMBO Rep 11:37-44. 2010..Flies lacking CG11347 show reduced autophagy in the fat body during pupal development. All together, our data indicate that DOR regulates autophagosome formation and protein degradation in mammalian and Drosophila cells... - The structure of human 4F2hc ectodomain provides a model for homodimerization and electrostatic interaction with plasma membraneJoana Fort
Barcelona Science Park and the Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Raras, E 08028 Barcelona, Spain
J Biol Chem 282:31444-52. 2007..These results provide the first crystal structure of heteromeric amino acid transporters and suggest a dynamic interaction of the 4F2hc ectodomain with the plasma membrane... - Identification of a novel modulator of thyroid hormone receptor-mediated actionBernhard G Baumgartner
Institute for Research in Biomedicine IRB Barcelona and Departament de Bioquímica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
PLoS ONE 2:e1183. 2007..Diabetes is characterized by reduced thyroid function and altered myogenesis after muscle injury. Here we identify a novel component of thyroid hormone action that is repressed in diabetic rat muscle... - Neuregulins increase mitochondrial oxidative capacity and insulin sensitivity in skeletal muscle cellsCarles Canto
Department of Biochemistry and Molecular Biology, School of Biology, University of Barcelona, Barcelona, Spain
Diabetes 56:2185-93. 2007..Here, we studied the metabolic adaptation of myocytes to chronic treatments with Hrg... - Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6Daniel Bach
Universitat de Barcelona, Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Avda Diagonal 645, Barcelona, Spain
Diabetes 54:2685-93. 2005.... - Expression patterns of MLC1 protein in the central and peripheral nervous systemsOscar Teijido
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona and Institute for Research in Biomedicine, Barcelona Science Park, Josep Samitier 1 5 Barcelona, E 08028, Spain
Neurobiol Dis 26:532-45. 2007..Our data provide a mouse MLC1 expression map that could be useful to understand the phenotype of MLC patients, and suggested that MLC disease is caused by an astrocytic and a neuronal dysfunction... - Mitochondrial fusion proteins: dual regulators of morphology and metabolismAntonio Zorzano
Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
Semin Cell Dev Biol 21:566-74. 2010..We propose that mitochondrial fusion proteins operate as integrators of signals so they regulate both mitochondrial fusion and metabolism... - Distinct classes of trafficking rBAT mutants cause the type I cystinuria phenotypePaola Bartoccioni
Department of Biochemistry and Molecular Biology, University of Barcelona, Barcelona, Spain
Hum Mol Genet 17:1845-54. 2008..Defects on either of these steps lead to the type I cystinuria phenotype... - Oral insulin-mimetic compounds that act independently of insulinSilvia García-Vicente
Institute for Research in Biomedicine, Josep Samitier 1 5, Barcelona, Spain
Diabetes 56:486-93. 2007..This represents a novel therapeutic approach for diabetic patients with severe insulin resistance... - Localization and functional analyses of the MLC1 protein involved in megalencephalic leukoencephalopathy with subcortical cystsOscar Teijido
Department of Biochemistry and Molecular Biology, Josep Samitier 1 5 Barcelona E 08028, Spain
Hum Mol Genet 13:2581-94. 2004..In summary, this study provides an explanation as to why mutations in MLC1 provoke the disease and points to a possible therapy for some patients... - Neuregulin signaling on glucose transport in muscle cellsCarles Canto
Departament de Bioquímica i Biologia Molecular and Parc Científic de Barcelona, Universitat de Barcelona, Avda Diagonal 645, E 08028 Barcelona, Spain
J Biol Chem 279:12260-8. 2004..The PI3K, PDK1, and PKCzeta pathway can be considered as an alternative mechanism, independent of insulin, to induce glucose uptake... - Cystinuria-specific rBAT(R365W) mutation reveals two translocation pathways in the amino acid transporter rBAT-b0,+ATMarta Pineda
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, Barcelona Science Park, Barcelona 08028, Spain
Biochem J 377:665-74. 2004..This is the first direct evidence that mutations in rBAT may modify transport properties of system b(0,+)... - The amino acid transporter asc-1 is not involved in cystinuriaMarta Pineda
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, Spain
Kidney Int 66:1453-64. 2004..We have cloned human asc-1, assessed its transport characteristics, localized its expression in kidney, searched for mutations in cystinuria patients, and tested the transport function of variant E112D... - The genetics of heteromeric amino acid transportersManuel Palacin
Department of Biochemistry and Molecular Biology, Faculty of Biology and Institut de Recerca Biomedica de Barcelona, Barcelona Science Park, University of Barcelona, Spain
Physiology (Bethesda) 20:112-24. 2005..Recent developments [including the identification of the first Hartnup disorder gene (B0AT1; SLC6A19)] and knockout mouse models have begun to reveal the basis of renal and intestinal reabsorption of amino acids in mammals... - Identification of LAT4, a novel amino acid transporter with system L activitySusanna Bodoy
Department of Biochemistry and Molecular Biology, University of Barcelona, Avda Diagonal 645, Barcelona E 08028, Spain
J Biol Chem 280:12002-11. 2005..In situ hybridization experiments show that LAT4 mRNA is restricted to the epithelial cells of the distal tubule and the collecting duct in the kidney. In the intestine, LAT4 is mainly present in the cells of the crypt... - Granulocyte-macrophage colony-stimulating factor increases L-arginine transport through the induction of CAT2 in bone marrow-derived macrophagesLorena Martin
Department of Biochemistry and Molecular Biology, University of Barcelona, Avenida Diagonal 645, Barcelona E 08028, Spain
Am J Physiol Cell Physiol 290:C1364-72. 2006..We conclude that BMM present mainly y(+)L activity and that, in response to GM-CSF, l-arginine transport augments through CAT2, thereby increasing the availability of this amino acid to the cell... - Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeatMariona Font-Llitjos
Medical and Molecular Genetics Center, IDIBELL, Hospital Duran i Reynals, L Hospitalet de Llobregat, Barcelona, Spain
Eur J Hum Genet 17:71-9. 2009..1 to 21.4%. Moreover, the 3' region AluY repeat could be a recombination hot spot as it is involved in 38% of all SLC7A7 rearranged chromosomes described so far... - The molecular machinery of mitochondrial fusion and fission: An opportunity for drug discovery?Antonio Zorzano
Institute for Research in Biomedicine, Barcelona, Spain
Curr Opin Drug Discov Devel 12:597-606. 2009.... - Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin actionEsther Llagostera
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain
PLoS ONE 2:e1134. 2007..Taken together, these findings indicate that reduced DMPK expression may directly influence the onset of insulin-resistance in DM1 patients and point to dmpk as a new candidate gene for susceptibility to type 2-diabetes... - Gene symbol: SLC3A1. Disease: CystinuriaV Nunes
Centre de Genetica Medica i Molecular (IRO, Hospital Duran i Reynals, Barcelona, Spain
Hum Genet 116:541. 2005 - Pathophysiology and treatment of cystinuriaJosep Chillarón
Department of Physiology, Faculty of Biology, Universitat de Barcelona, Diagonal 645, Barcelona 08028, Spain
Nat Rev Nephrol 6:424-34. 2010..This Review also describes the current treatments to prevent recurrent cystine lithiasis... - Functional and structural characterization of the first prokaryotic member of the L-amino acid transporter (LAT) family: a model for APC transportersNuria Reig
Institute for Research in Biomedicine, Barcelona Science Park and Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, E 08028 Barcelona, Spain
J Biol Chem 282:13270-81. 2007..SteT represents an excellent model to study the molecular architecture of the light subunits of heteromeric amino acid transporters and other APC transporters... - Mitochondrial dynamics in mammalian health and diseaseMarc Liesa
Institute for Research in Biomedicine IRB Barcelona, CIBER de Diabetes y Enfermedades Metabólicas Asociadas, and Departament de Bioquímica i Biologia Molecular, Universitat de Barcelona, Barcelona 08028, Spain
Physiol Rev 89:799-845. 2009..Here we review the most significant findings in the field of mitochondrial dynamics in mammalian cells and their implication in human pathologies... - Arylalkylamine vanadium salts as new anti-diabetic compoundsAntonio Zorzano
Institute for Research in Biomedicine IRB Barcelona, C Baldiri Reixac 10, Barcelona, Spain
J Inorg Biochem 103:559-66. 2009..The combination of different approaches to decrease vanadium doses, among them chelating agents and SSAO substrates, should permit to develop safe and efficient vanadium based agents safe for diabetes treatment... - Thiol modification of cysteine 327 in the eighth transmembrane domain of the light subunit xCT of the heteromeric cystine/glutamate antiporter suggests close proximity to the substrate binding site/permeation pathwayMaite Jimenez-Vidal
Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, E 08028 Barcelona, Spain
J Biol Chem 279:11214-21. 2004..The results indicate that Cys(327) is a functionally important residue accessible to the aqueous extracellular environment and is structurally linked to the permeation pathway and/or the substrate binding site... - rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidneyEsperanza Fernandez
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Barcelona 08028, Spain
Am J Physiol Renal Physiol 283:F540-8. 2002..Indeed, complete immunodepletion of b(0,+)AT did not coprecipitate >20-30% of rBAT. Therefore, another rBAT-associated subunit may be present in latter parts of the proximal tubule... - Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studiesMariona Font-Llitjos
Medical and Molecular Genetics Center, Institut d Investigacio Biomedica de Bellvitge, L Hospitalet de Llobregat, Barcelona, Spain
Am J Physiol Renal Physiol 293:F732-40. 2007..Our results validate the use of this mouse model for testing the efficacy of potential new drugs against cystinuria... - The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS systemSara Pich
Departament de Bioquimica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, and IRBB PCB, Parc Cientific de Barcelona, Barcelona, Spain
Hum Mol Genet 14:1405-15. 2005..Our results indicate that Mfn2 triggers mitochondrial energization, at least in part, by regulating OXPHOS expression through signals that are independent of its role as a mitochondrial fusion protein... - Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helixMaria J Macias
Institut de Recerca Biomèdica, Parc Cientific de Barcelona, Josep Samitier 1 5, Barcelona, E 08028, Spain
Biochem J 403:79-87. 2007..We provide the first experimental investigation of structural changes resulting from myotonia-causing mutations... - Differential regulation of the muscle-specific GLUT4 enhancer in regenerating and adult skeletal muscleHoracio Moreno
Parc Científic de Barcelona and Departament de Bioquímica i Biologia Molecular, Facultat de Biologia, Universitat de Barcelona, Avda Diagonal 645, E 08028 Barcelona, Spain
J Biol Chem 278:40557-64. 2003..The activity of the enhancer is maintained in adult muscle by MEF2, whereas during regeneration the operation of the enhancer depends on MEF2, myogenic transcription factors of the MyoD family, and thyroid hormone receptors... - The nuclear receptor coactivator AIB3 is a modulator of HOMA beta-cell function in nondiabetic childrenHans Burghardt
Institute for Research in Biomedicine IRB, Barcelona, Spain
Clin Endocrinol (Oxf) 69:730-6. 2008..Our objective was to evaluate genetic variants located on AIB3 associated with beta-cell function in children and to analyse the effect of AIB3 overexpression on gene expression in insulin 1 (INS-1) beta-pancreatic cells... - Semicarbazide-sensitive amine oxidase activity exerts insulin-like effects on glucose metabolism and insulin-signaling pathways in adipose cellsAntonio Zorzano
Facultat de Biologia, Departament de Bioquimica i Biologia Molecular, Universitat de Barcelona, Avda Diagonal 645, 08028 Barcelona, Spain
Biochim Biophys Acta 1647:3-9. 2003..Based on these observations, we propose that SSAO activity and vanadate potently mimic insulin effects in adipose cells and exert an anti-diabetic action in an animal model of type 1 diabetes mellitus... - Intracellular signals involved in the effects of insulin-like growth factors and neuregulins on myofibre formationAntonio Zorzano
Facultat de Biologia, Departament de Bioqui mica i Biologia Molecular, Universitat de Barcelona, Avda Diagonal 645, E 08028, Barcelona, Spain
Cell Signal 15:141-9. 2003..A fuller understanding of the signalling pathways triggered by these factors may permit the design of new tools for muscle regeneration therapy...