ESTEBAN C DELL'ANGELICA

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth
    C A Ghiani
    Mental Retardation Research Center, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095 7332, USA
    Mol Psychiatry 15:115, 204-15. 2010
  2. ncbi request reprint 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
  3. ncbi request reprint The building BLOC(k)s of lysosomes and related organelles
    ESTEBAN 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
  4. ncbi request reprint Melanosome biogenesis: shedding light on the origin of an obscure organelle
    ESTEBAN 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
  5. doi request reprint AP-3-dependent trafficking and disease: the first decade
    ESTEBAN 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
  6. ncbi request reprint 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
  7. pmc BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes
    Santiago M Di Pietro
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Mol Biol Cell 17:4027-38. 2006
  8. ncbi request reprint Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3
    Juan M Falcon-Perez
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    J Cell Sci 118:5243-55. 2005
  9. pmc Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    Ramin 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
  10. pmc Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein
    Ramin Nazarian
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Biochem J 395:587-98. 2006

Research Grants

  1. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2001
  2. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2002
  3. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2003
  4. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2003
  5. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2004
  6. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2004
  7. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2005
  8. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2006
  9. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2007

Collaborators

Detail Information

Publications23

  1. pmc The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth
    C A Ghiani
    Mental Retardation Research Center, Jane and Terry Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA 90095 7332, USA
    Mol Psychiatry 15:115, 204-15. 2010
    ....
  2. ncbi request reprint 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...
  3. ncbi request reprint The building BLOC(k)s of lysosomes and related organelles
    ESTEBAN 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...
  4. ncbi request reprint Melanosome biogenesis: shedding light on the origin of an obscure organelle
    ESTEBAN 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...
  5. doi request reprint AP-3-dependent trafficking and disease: the first decade
    ESTEBAN 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...
  6. ncbi request reprint 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...
  7. pmc BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes
    Santiago 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...
  8. ncbi request reprint Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3
    Juan 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...
  9. pmc Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4
    Ramin 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
    ....
  10. pmc Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein
    Ramin 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...
  11. ncbi request reprint BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules
    Juan 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...
  12. pmc An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome
    Ramin 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
    ....
  13. ncbi request reprint 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...
  14. doi request reprint Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3
    Verónica 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...
  15. pmc Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes
    Juan 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
    ....
  16. ncbi request reprint The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome
    Marta Starcevic
    Department of Human Genetics, School of Medicine, University of California at Los Angeles UCLA, Gonda Center, Room 6357B, Los Angeles, CA 90095 7088, USA
    Semin Cell Dev Biol 13:271-8. 2002
    ..This review discusses the biochemical and functional properties of the products of identified HPS genes, which include subunits of the AP-3 complex and the novel proteins HPS1p, HPS3p, HPS4p, pallidin and muted...
  17. pmc Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
    Diego 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...
  18. ncbi request reprint Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6
    Santiago 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...
  19. pmc Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency
    Verónica 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...
  20. ncbi request reprint The cell biology of Hermansky-Pudlak syndrome: recent advances
    Santiago M Di Pietro
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Traffic 6:525-33. 2005
    ..A small GTPase of the Rab family, Rab38, is also implicated in the pathogenesis of the disease. This article reviews recent progress toward elucidating the cellular functions of these proteins...
  21. pmc Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Valerie A Arboleda
    Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, California, USA
    Nat Genet 44:788-92. 2012
    ..All IMAGe-associated mutations clustered in the PCNA-binding domain of CDKN1C and resulted in loss of PCNA binding, distinguishing them from the mutations of CDKN1C that cause Beckwith-Wiedemann syndrome, an overgrowth syndrome...
  22. ncbi request reprint The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis
    Juan 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 Grants9

  1. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2001
    ....
  2. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2002
    ....
  3. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2003
    ....
  4. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2003
    ..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. ..
  5. Molecular Basis for Platelet Dense Granule Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2004
    ....
  6. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2004
    ..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. ..
  7. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2005
    ..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. ..
  8. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN DELL ANGELICA; Fiscal Year: 2006
    ..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. ..
  9. Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    ESTEBAN 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. ..