Esteban C Dell'angelica

Title(s)Department Vice Chair, Human Genetics
vCardDownload vCard
    Other Positions
    Title(s)Professor, Human Genetics

    Collapse Biography 
    Collapse Education and Training
    University of Buenos Aires, Buenos Aires, ArgentinaPhD04/1995Biochemistry

    Collapse Overview 
    Collapse Overview
    Esteban Dell’Angelica is Professor and Vice Chair in the Department of Human Genetics. He also serves as Director of Scientific Foundations of Medicine, a component of the HEALS medical curriculum in the David Geffen School of Medicine at UCLA. He got his PhD degree at the University of Buenos Aires (Argentina) for his isolation and biochemical characterization of a hitherto unknown calcium-binding protein from neutrophils. During his postdoctoral training in the laboratory of Juan S. Bonifacino, PhD, at the National Institutes of Health (Bethesda, Maryland), he identified and characterized several components of the molecular machinery for protein trafficking within the so-called ‘late secretory’ and ‘endocytic’ intracellular pathways and described the first example of human disease due to mutations in a known component of such molecular machinery (Hermansky-Pudlak syndrome type 2). As a faculty member at UCLA, he identified and characterized three multi-subunit protein complexes, named BLOC-1 through -3, which are required for the biogenesis of lysosome-related organelles such as melanosomes and platelet dense granules. He is an active member of a multidisciplinary team at UCLA that collaborates with other teams of the nation-wide Undiagnosed Diseases Network (UDN) to tackle very rare and poorly understood human diseases.

    Collapse Research 
    Collapse Research Activities and Funding
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH U01NS134356Sep 15, 2023 - Apr 30, 2024
    Role: Co-Investigator
    Biogenesis of melanosomes and other lysosome-related organelles
    NIH R01GM112942Dec 1, 2014 - Nov 30, 2019
    Role: Principal Investigator
    UCLA clinical site for the investigation of undiagnosed disorders
    NIH U01HG007703Jul 1, 2014 - Jun 30, 2022
    Role: Co-Investigator
    Role of BLOC-3 in Lysosome and Melanosome Biogenesis
    NIH R01EY015143Aug 1, 2003 - Jul 31, 2009
    Role: Principal Investigator
    Molecular Basis for Platelet Dense Granule Biogenesis
    NIH R01HL068117Sep 11, 2001 - Jun 30, 2006
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development. J Neurosci Res. 2021 01; 99(1):67-89. Lee FY, Larimore J, Faundez V, Dell'Angelica EC, Ghiani CA. PMID: 32436302; PMCID: PMC7677168.
      View in: PubMed   Mentions:    Fields:    Translation:Animals
    2. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020 03; 22(3):490-499. Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC, Undiagnosed Diseases Network, Palmer CGS, Martinez-Agosto JA, Nelson SF. PMID: 31607746; PMCID: PMC7405636.
      View in: PubMed   Mentions: 84     Fields:    Translation:HumansCells
    3. Coatopathies: Genetic Disorders of Protein Coats. Annu Rev Cell Dev Biol. 2019 10 06; 35:131-168. Dell'Angelica EC, Bonifacino JS. PMID: 31399000; PMCID: PMC7310445.
      View in: PubMed   Mentions: 41     Fields:    Translation:HumansAnimalsCells
    4. Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency. Front Neurosci. 2018; 12:759. Lee FY, Wang HB, Hitchcock ON, Loh DH, Whittaker DS, Kim YS, Aiken A, Kokikian C, Dell'Angelica EC, Colwell CS, Ghiani CA. PMID: 30498428; PMCID: PMC6249416.
      View in: PubMed   Mentions: 8  
    5. BLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus. Sci Rep. 2017 07 12; 7(1):5231. van Liempd SM, Cabrera D, Lee FY, González E, Dell'Angelica EC, Ghiani CA, Falcon-Perez JM. PMID: 28701731; PMCID: PMC5507893.
      View in: PubMed   Mentions: 1     Fields:    Translation:AnimalsCells
    6. Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster. PLoS One. 2015; 10(11):e0143026. Rodriguez-Fernandez IA, Dell'Angelica EC. PMID: 26565960; PMCID: PMC4643998.
      View in: PubMed   Mentions: 4     Fields:    Translation:AnimalsCells
    7. Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes. J Biol Chem. 2014 Nov 28; 289(48):33513-28. Bultema JJ, Boyle JA, Malenke PB, Martin FE, Dell'Angelica EC, Cheney RE, Di Pietro SM. PMID: 25324551; PMCID: PMC4246105.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    8. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27; 44(7):788-92. Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Délot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergadá I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. PMID: 22634751; PMCID: PMC3386373.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    9. Dysbindin-containing complexes and their proposed functions in brain: from zero to (too) many in a decade. ASN Neuro. 2011 May 27; 3(2). Ghiani CA, Dell'Angelica EC. PMID: 21504412; PMCID: PMC3155195.
      View in: PubMed   Mentions: 43     Fields:    Translation:HumansAnimalsCells
    10. Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation. Pigment Cell Melanoma Res. 2011 Apr; 24(2):275-81. Hoyle DJ, Rodriguez-Fernandez IA, Dell'angelica EC. PMID: 21392365; PMCID: PMC3070960.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    11. Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3. Traffic. 2010 May; 11(5):579-86. Cheli VT, Dell'Angelica EC. PMID: 20102546.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    12. Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency. Hum Mol Genet. 2010 Mar 01; 19(5):861-78. Cheli VT, Daniels RW, Godoy R, Hoyle DJ, Kandachar V, Starcevic M, Martinez-Agosto JA, Poole S, DiAntonio A, Lloyd VK, Chang HC, Krantz DE, Dell'Angelica EC. PMID: 20015953; PMCID: PMC2816613.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    13. The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol Psychiatry. 2010 Feb; 15(2):115, 204-15. Ghiani CA, Starcevic M, Rodriguez-Fernandez IA, Nazarian R, Cheli VT, Chan LN, Malvar JS, de Vellis J, Sabatti C, Dell'Angelica EC. PMID: 19546860; PMCID: PMC2811213.
      View in: PubMed   Mentions: 81     Fields:    Translation:AnimalsCells
    14. AP-3-dependent trafficking and disease: the first decade. Curr Opin Cell Biol. 2009 Aug; 21(4):552-9. Dell'Angelica EC. PMID: 19497727.
      View in: PubMed   Mentions: 95     Fields:    Translation:HumansAnimalsCells
    15. Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. Mol Biol Cell. 2009 Mar; 20(5):1464-77. Sitaram A, Piccirillo R, Palmisano I, Harper DC, Dell'Angelica EC, Schiaffino MV, Marks MS. PMID: 19116314; PMCID: PMC2649270.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansAnimalsCells
    16. A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Inherit Metab Dis. 2009 Apr; 32(2):190-203. Rodriguez-Fernandez IA, Dell'Angelica EC. PMID: 19083121; PMCID: PMC2756288.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimalsCells
    17. An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab. 2008 Feb; 93(2):134-44. Nazarian R, Huizing M, Helip-Wooley A, Starcevic M, Gahl WA, Dell'Angelica EC. PMID: 17933573; PMCID: PMC2242292.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    18. Zinc transporter 2 (SLC30A2) can suppress the vesicular zinc defect of adaptor protein 3-depleted fibroblasts by promoting zinc accumulation in lysosomes. Exp Cell Res. 2007 Apr 15; 313(7):1473-83. Falcón-Pérez JM, Dell'Angelica EC. PMID: 17349999; PMCID: PMC1885236.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    19. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. 2007 Mar; 18(3):768-80. Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, Lamoreux ML, Di Pietro SM, Starcevic M, Bennett DC, Dell'Angelica EC, Raposo G, Marks MS. PMID: 17182842; PMCID: PMC1805088.
      View in: PubMed   Mentions: 124     Fields:    Translation:HumansAnimalsCells
    20. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Traffic. 2007 Feb; 8(2):154-68. Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC. PMID: 17156100.
      View in: PubMed   Mentions: 18     Fields:    Translation:AnimalsCells
    21. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. 2006 Sep; 17(9):4027-38. Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, Dell'Angelica EC. PMID: 16837549; PMCID: PMC1593172.
      View in: PubMed   Mentions: 118     Fields:    Translation:HumansAnimalsCells
    22. BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes. Mol Biol Cell. 2006 Sep; 17(9):4014-26. Salazar G, Craige B, Styers ML, Newell-Litwa KA, Doucette MM, Wainer BH, Falcon-Perez JM, Dell'Angelica EC, Peden AA, Werner E, Faundez V. PMID: 16760431; PMCID: PMC1556383.
      View in: PubMed   Mentions: 73     Fields:    Translation:AnimalsCells
    23. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein. Biochem J. 2006 May 01; 395(3):587-98. Nazarian R, Starcevic M, Spencer MJ, Dell'Angelica EC. PMID: 16448387; PMCID: PMC1462696.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimalsCells
    24. Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3. J Cell Sci. 2005 Nov 15; 118(Pt 22):5243-55. Falcón-Pérez JM, Nazarian R, Sabatti C, Dell'Angelica EC. PMID: 16249233.
      View in: PubMed   Mentions: 104     Fields:    Translation:AnimalsCells
    25. The cell biology of Hermansky-Pudlak syndrome: recent advances. Traffic. 2005 Jul; 6(7):525-33. Di Pietro SM, Dell'Angelica EC. PMID: 15941404.
      View in: PubMed   Mentions: 89     Fields:    Translation:Humans
    26. Normal lytic granule secretion by cytotoxic T lymphocytes deficient in BLOC-1, -2 and -3 and myosins Va, VIIa and XV. Traffic. 2005 Mar; 6(3):243-51. Bossi G, Booth S, Clark R, Davis EG, Liesner R, Richards K, Starcevic M, Stinchcombe J, Trambas C, Dell'Angelica EC, Griffiths GM. PMID: 15702992.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    27. The building BLOC(k)s of lysosomes and related organelles. Curr Opin Cell Biol. 2004 Aug; 16(4):458-64. Dell'Angelica EC. PMID: 15261680.
      View in: PubMed   Mentions: 76     Fields:    Translation:HumansAnimalsCells
    28. 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). J Biol Chem. 2004 Jul 02; 279(27):28393-401. Starcevic M, Dell'Angelica EC. PMID: 15102850.
      View in: PubMed   Mentions: 124     Fields:    Translation:HumansAnimalsCells
    29. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic. 2004 Apr; 5(4):276-83. Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC. PMID: 15030569.
      View in: PubMed   Mentions: 52     Fields:    Translation:Humans
    30. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). J Biol Chem. 2004 Mar 26; 279(13):12935-42. Gautam R, Chintala S, Li W, Zhang Q, Tan J, Novak EK, Di Pietro SM, Dell'Angelica EC, Swank RT. PMID: 14718540.
      View in: PubMed   Mentions: 32     Fields:    Translation:AnimalsCells
    31. Melanosome biogenesis: shedding light on the origin of an obscure organelle. Trends Cell Biol. 2003 Oct; 13(10):503-6. Dell'Angelica EC. PMID: 14507476.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    32. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep; 35(1):84-9. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. PMID: 12923531; PMCID: PMC2860733.
      View in: PubMed   Mentions: 164     Fields:    Translation:HumansAnimalsCells
    33. Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. Proc Natl Acad Sci U S A. 2003 Jul 22; 100(15):8770-5. Nazarian R, Falcón-Pérez JM, Dell'Angelica EC. PMID: 12847290; PMCID: PMC166388.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansAnimalsCells
    34. The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. Semin Cell Dev Biol. 2002 Aug; 13(4):271-8. Starcevic M, Nazarian R, Dell'Angelica EC. PMID: 12243726.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    35. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. Mol Biol Cell. 2002 Jul; 13(7):2410-20. Vesa J, Chin MH, Oelgeschläger K, Isosomppi J, DellAngelica EC, Jalanko A, Peltonen L. PMID: 12134079; PMCID: PMC117323.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansAnimalsCells
    36. BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules. J Biol Chem. 2002 Aug 02; 277(31):28191-9. Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC. PMID: 12019270.
      View in: PubMed   Mentions: 82     Fields:    Translation:HumansAnimalsCells
    37. The pallidin (Pldn) gene and the role of SNARE proteins in melanosome biogenesis. Pigment Cell Res. 2002 Apr; 15(2):82-6. Falcón-Pérez JM, Dell'Angelica EC. PMID: 11936273.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimalsCells
    38. Intracellular cycling of lysosomal enzyme receptors: cytoplasmic tails' tales. Cell. 2001 Aug 24; 106(4):395-8. Dell'Angelica EC, Payne GS. PMID: 11525725.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    39. Clathrin-binding proteins: got a motif? Join the network! Trends Cell Biol. 2001 Aug; 11(8):315-8. Dell'Angelica EC. PMID: 11489622.
      View in: PubMed   Mentions: 49     Fields:    Translation:AnimalsCells
    40. GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex. J Cell Biol. 2000 Apr 03; 149(1):81-94. Dell'Angelica EC, Puertollano R, Mullins C, Aguilar RC, Vargas JD, Hartnell LM, Bonifacino JS. PMID: 10747089; PMCID: PMC2175099.
      View in: PubMed   Mentions: 152     Fields:    Translation:HumansAnimalsCells
    41. Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. J Biol Chem. 2000 Jan 14; 275(2):1300-6. Dell'Angelica EC, Aguilar RC, Wolins N, Hazelwood S, Gahl WA, Bonifacino JS. PMID: 10625677.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansAnimalsCells
    42. AP-4, a novel protein complex related to clathrin adaptors. J Biol Chem. 1999 Mar 12; 274(11):7278-85. Dell'Angelica EC, Mullins C, Bonifacino JS. PMID: 10066790.
      View in: PubMed   Mentions: 104     Fields:    Translation:HumansAnimalsCells
    43. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. 1999 Jan; 3(1):11-21. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. PMID: 10024875.
      View in: PubMed   Mentions: 230     Fields:    Translation:HumansCells
    44. Association of the AP-3 adaptor complex with clathrin. Science. 1998 Apr 17; 280(5362):431-4. Dell'Angelica EC, Klumperman J, Stoorvogel W, Bonifacino JS. PMID: 9545220.
      View in: PubMed   Mentions: 143     Fields:    Translation:HumansCells
    45. Beta3A-adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem. 1997 Jun 13; 272(24):15078-84. Dell'Angelica EC, Ooi CE, Bonifacino JS. PMID: 9182526.
      View in: PubMed   Mentions: 48     Fields:    Translation:Cells
    46. AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J. 1997 Mar 03; 16(5):917-28. Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW, Bonifacino JS. PMID: 9118953; PMCID: PMC1169692.
      View in: PubMed   Mentions: 122     Fields:    Translation:HumansCells
    47. Purification and partial characterization of a fatty acid-binding protein from the yeast, Yarrowia lipolytica. Biochem Mol Biol Int. 1996 Jun; 39(3):439-45. Dell'Angelica EC, Ermácora MR, Santomé JA. PMID: 8828794.
      View in: PubMed   Mentions: 2     Fields:    Translation:AnimalsCells
    48. Complex assembly of calgranulins A and B, two S100-like calcium-binding proteins from pig granulocytes. Int J Biochem Cell Biol. 1996 Jan; 28(1):53-62. Dell'Angelica EC, Schleicher CH, Simpson RJ, Santome JA. PMID: 8624844.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    49. Primary structure and binding properties of calgranulin C, a novel S100-like calcium-binding protein from pig granulocytes. J Biol Chem. 1994 Nov 18; 269(46):28929-36. Dell'Angelica EC, Schleicher CH, Santomé JA. PMID: 7961855.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    50. Inhibitory action of palmitic acid on the growth of Saccharomyces cerevisiae. Folia Microbiol (Praha). 1993; 38(6):486-90. Dell'Angelica EC, Stella CA, Ermácora MR, Santomé JA, Ramos EH. PMID: 8150397.
      View in: PubMed   Mentions: 1     Fields:    Translation:AnimalsCells
    51. Study on fatty acid binding by proteins in yeast. Dissimilar results in Saccharomyces cerevisiae and Yarrowia lipolytica. Comp Biochem Physiol B. 1992 Jun; 102(2):261-5. Dell'Angelica EC, Stella CA, Ermácora MR, Ramos EH, Santome JA. PMID: 1617937.
      View in: PubMed   Mentions: 3     Fields:    Translation:Animals
    Esteban's Networks
    Concepts (300)
    Derived automatically from this person's publications.
    Co-Authors (23)
    People in Profiles who have published with this person.
    Similar People (60)
    People who share similar concepts with this person.
    Same Department
    Search Department