Research Topics
Genomes and Genes
| ESTEBAN C DELL'ANGELICASummaryAffiliation: University of California Country: USA Publications
Research Grants
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Detail Information
Publications
Clathrin-binding proteins: got a motif? Join the network!E C Dell'Angelica
Dept of Human Genetics, University of California at Los Angeles UCLA School of Medicine, Gonda Center, Room 6357B, Los Angeles, CA 90095 7088, USA
Trends Cell Biol 11:315-8. 2001..This article discusses the different types of clathrin-binding proteins and motifs as well as the physiological significance of these proteins in clathrin-dependent events...- AP-3-dependent trafficking and disease: the first decadeESTEBAN C DELL'ANGELICA
Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 7088, USA
Curr Opin Cell Biol 21:552-9. 2009..These studies have brought into focus ideas about the specific roles of this pathway in protein trafficking and organelle biogenesis within the endosomal-lysosomal system... - Melanosome biogenesis: shedding light on the origin of an obscure organelleESTEBAN C DELL'ANGELICA
Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Gonda Center 6357B, Los Angeles, CA 90095, USA
Trends Cell Biol 13:503-6. 2003..Recent work by the groups of Michael Marks and Graça Raposo has uncovered the molecular mechanism that results in the formation of the lumenal striations characteristic of melanosome precursor organelles... - The building BLOC(k)s of lysosomes and related organellesESTEBAN C DELL'ANGELICA
Department of Human Genetics, David Geffen School of Medicine at UCLA, Gonda Center 6357B, Los Angeles, California 90095 7088, USA
Curr Opin Cell Biol 16:458-64. 2004..These findings provide a framework for studies on the function of these proteins and the pathogenesis of Hermansky-Pudlak syndrome... - Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)Marta Starcevic
Department of Human Genetics, University of California Los Angeles, Los Angeles, CA 90095, USA
J Biol Chem 279:28393-401. 2004..Mutations in the human genes encoding Snapin and the BLOS proteins could underlie novel forms of HPS... - 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... - 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.... - Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding proteinRamin Nazarian
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Biochem J 395:587-98. 2006..Taken together, these results suggest that dysbindin assembled into BLOC-1 is not a physiological binding partner of the dystrobrevins, likely due to engagement of its dystrobrevin-binding region in interactions with other subunits... - 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 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... - An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndromeRamin Nazarian
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Mol Genet Metab 93:134-44. 2008.... - 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.... - Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3Verónica T Cheli
Department of Human Genetics, David Geffen School of Medicine, University of California, Gonda 6357B, 695 Charles E Young Dr S, Los Angeles, CA 90095 7088, USA
Traffic 11:579-86. 2010..Potential orthologs of Mon1 and Ccz1 were found in humans and several other eukaryotes... - 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... - Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentationDiego J Hoyle
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
Pigment Cell Melanoma Res 24:275-81. 2011..These observations suggest functional links between OCA2 and these three protein complexes involved in melanosome biogenesis... - Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiencyVerónica T Cheli
Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
Hum Mol Genet 19:861-78. 2010..These observations validate Drosophila melanogaster as a powerful model for the study of BLOC-1 function and its interactions with modifier genes... - 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...
Research Grants
- Molecular Basis for Platelet Dense Granule BiogenesisESTEBAN DELL ANGELICA; Fiscal Year: 2004....
- Role of BLOC-3 in Lysosome and Melanosome BiogenesisESTEBAN DELL ANGELICA; Fiscal Year: 2007..This research may provide important insights into the basic question of how melanosomes and related organelles are formed, and pave the way for the development of potential treatments for HPS. ..