Esteban C Dell'angelica

Title(s)Professor, Human Genetics
SchoolMedicine
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    Collapse Research 
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    Biogenesis of melanosomes and other lysosome-related organelles
    NIH R01GM112942Dec 1, 2014 - Nov 30, 2019
    Role: Principal 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

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    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.
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    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.
      View in: PubMed   Mentions:    Fields:    
    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.
      View in: PubMed   Mentions: 22     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.
      View in: PubMed   Mentions: 8     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.
      View in: PubMed   Mentions:
    5. Melanosomes made from recycling (endosomes): A tubule-stabilizing function revealed for Biogenesis of Lysosome-related Organelles Complex-1. Pigment Cell Melanoma Res. 2016 May; 29(3):258-9. Dell'Angelica EC. PMID: 26801347.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    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: 2     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: 26     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.
      View in: PubMed   Mentions: 61     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.
      View in: PubMed   Mentions: 38     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: 7     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: 12     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.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansAnimalsCells
    13. 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: 86     Fields:    Translation:HumansAnimalsCells
    14. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    15. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    16. 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.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansAnimalsCells
    17. 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.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansAnimalsCells
    18. 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
    19. 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.
      View in: PubMed   Mentions: 106     Fields:    Translation:HumansAnimalsCells
    20. 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.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansAnimalsCells
    21. 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: 75     Fields:    Translation:AnimalsCells
    22. 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: 85     Fields:    Translation:Humans
    23. 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: 7     Fields:    Translation:HumansAnimalsCells
    24. 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: 72     Fields:    Translation:HumansAnimalsCells
    25. 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: 116     Fields:    Translation:HumansAnimalsCells
    26. 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: 43     Fields:    Translation:Humans
    27. 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: 27     Fields:    Translation:AnimalsCells
    28. 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: 11     Fields:    Translation:HumansCells
    29. 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: 151     Fields:    Translation:HumansAnimalsCells
    30. 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.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    31. 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
    32. 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: 75     Fields:    Translation:HumansAnimalsCells
    33. 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
    34. 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: 15     Fields:    Translation:HumansAnimalsCells
    35. 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: 47     Fields:    Translation:AnimalsCells
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