Research Topics
Genomes and Genes
| Juan M Falcon-PerezSummaryCountry: Spain Publications
| Collaborators
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Detail Information
Publications
Sub-proteome approach to the knowledge of liverJuan M Falcon-Perez
Metabolomics Unit, CICbioGUNE, CIBERehd, Bizkaia Technology Park, Derio, Bizkaia, Spain
Proteomics Clin Appl 4:407-15. 2010....
Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomesJuan M Falcon-Perez
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Exp Cell Res 313:1473-83. 2007....
Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73RArola Fortian
Structural Biology Unit, Centro de Investigacion Cooperativa en Biociencias, Derio, Vizcaya 48160, Spain
J Biol Chem 286:13127-33. 2011..The intracellularly recovered C73R-UROIIIS protein shows enzymatic activity, paving the way for a new line of therapeutic intervention in CEP patients...
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4Ramin Nazarian
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Proc Natl Acad Sci U S A 100:8770-5. 2003....
BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granulesJuan M Falcon-Perez
Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA
J Biol Chem 277:28191-9. 2002..We propose that BLOC-1 mediates the biogenesis of lysosome-related organelles by a mechanism that may involve self-assembly and interaction with the actin cytoskeleton...
The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesisJuan M Falcon-Perez
Department of Human Genetics, University of California at Los Angeles UCLA School of Medicine, 90095, USA
Pigment Cell Res 15:82-6. 2002..As SNARE proteins mediate fusion of intracellular membranes, pallidin may play a role in membrane fusion events required for melanosome biogenesis...
BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomesSantiago M Di Pietro
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
Mol Biol Cell 17:4027-38. 2006..These findings support the idea that BLOC-1 and -2 represent hitherto unknown components of the endosomal protein trafficking machinery...
Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3Juan M Falcon-Perez
Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
J Cell Sci 118:5243-55. 2005..These results suggest that BLOC-3 function is required, directly or indirectly, for optimal attachment of late endocytic organelles to microtubule-dependent motors...
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6Santiago M Di Pietro
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Traffic 5:276-83. 2004..Our results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease...
Overview of extracellular microvesicles in drug metabolismJavier Conde-Vancells
Metabolomics Unit, CICbioGUNE, CIBERehd, Bizkaia Technology Park, Bldg 801 A, Derio 48160, Bizkaia, Spain
Expert Opin Drug Metab Toxicol 6:543-54. 2010....
Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyriaArola Fortian
CIC bioGUNE, Bizkaia Technology Park, Derio, Spain
Adv Protein Chem Struct Biol 83:43-74. 2011..The stabilization of the protein in vivo is discussed in the context of a new line of intervention to complement existing treatments such as bone marrow transplantation and gene therapy...
Characterization and comprehensive proteome profiling of exosomes secreted by hepatocytesJavier Conde-Vancells
Metabolomics Unit, CICbioGUNE, CIBERehd, Bizkaia Technology Park, Derio, 48160, Bizkaia, Spain
J Proteome Res 7:5157-66. 2008..Furthermore, we demonstrated that exosomal membrane proteins can constitute an interesting tool to express nonexosomal proteins into exosomes with therapeutic purposes...
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5)Juan M Falcon-Perez
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Traffic 8:154-68. 2007..The phenotype of pink mutants was exacerbated by mutations in AP-3 subunits or in the orthologs of VPS33A and Rab38. These results validate D. melanogaster as a genetic model to study the function of the BLOCs...
