Coatopathies: Genetic Disorders of Protein Coats
Dell'Angelica, Esteban C, Bonifacino, Juan S
Published in Annual review of cell and developmental biology (06.10.2019)
Published in Annual review of cell and developmental biology (06.10.2019)
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Journal Article
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Lee, Hane, Huang, Alden Y., Wang, Lee-kai, Yoon, Amanda J., Renteria, Genecee, Eskin, Ascia, Signer, Rebecca H., Dorrani, Naghmeh, Nieves-Rodriguez, Shirley, Wan, Jijun, Douine, Emilie D., Woods, Jeremy D., Dell’Angelica, Esteban C., Fogel, Brent L., Martin, Martin G., Butte, Manish J., Parker, Neil H., Wang, Richard T., Shieh, Perry B., Wong, Derek A., Gallant, Natalie, Singh, Kathryn E., Tavyev Asher, Y. Jane, Sinsheimer, Janet S., Krakow, Deborah, Loo, Sandra K., Allard, Patrick, Papp, Jeanette C., Palmer, Christina, Martinez-Agosto, Julian A., Nelson, Stanley F.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
ARBOLEDA, Valerie A, LEE, Hane, DELL'ANGELICA, Esteban C, NELSON, Stanley F, MARTINEZ-AGOSTO, Julian A, ACHERMANN, John C, VILAIN, Eric, PARNAIK, Rahul, FLEMING, Alice, BANERJEE, Abhik, FERRAZ-DE-SOUZA, Bruno, DELOT, Emmanuèle C, RODRIGUEZ-FERNANDEZ, Imilce A, BRASLAVSKY, Debora, BERGADA, Ignacio
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Journal Article
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)
Starcevic, Marta, Dell'Angelica, Esteban C
Published in The Journal of biological chemistry (02.07.2004)
Published in The Journal of biological chemistry (02.07.2004)
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Journal Article
The Cell Biology of Hermansky–Pudlak Syndrome: Recent Advances
Di Pietro, Santiago M., Dell'Angelica, Esteban C.
Published in Traffic (Copenhagen, Denmark) (01.07.2005)
Published in Traffic (Copenhagen, Denmark) (01.07.2005)
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Journal Article
Sleep/Wake Disruption in a Mouse Model of BLOC-1 Deficiency
Lee, Frank Y, Wang, Huei-Bin, Hitchcock, Olivia N, Loh, Dawn Hsiao, Whittaker, Daniel S, Kim, Yoon-Sik, Aiken, Achilles, Kokikian, Collette, Dell'Angelica, Esteban C, Colwell, Christopher S, Ghiani, Cristina A
Published in Frontiers in neuroscience (15.11.2018)
Published in Frontiers in neuroscience (15.11.2018)
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Journal Article
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles
Setty, Subba Rao Gangi, Tenza, Danièle, Truschel, Steven T, Chou, Evelyn, Sviderskaya, Elena V, Theos, Alexander C, Lamoreux, M Lynn, Di Pietro, Santiago M, Starcevic, Marta, Bennett, Dorothy C, Dell'Angelica, Esteban C, Raposo, Graça, Marks, Michael S
Published in Molecular biology of the cell (01.03.2007)
Published in Molecular biology of the cell (01.03.2007)
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Journal Article
Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function
Sitaram, Anand, Piccirillo, Rosanna, Palmisano, Ilaria, Harper, Dawn C, Dell'Angelica, Esteban C, Schiaffino, M Vittoria, Marks, Michael S
Published in Molecular biology of the cell (01.03.2009)
Published in Molecular biology of the cell (01.03.2009)
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Journal Article
Genetic modifiers of abnormal organelle biogenesis in a Drosophila model of BLOC-1 deficiency
Cheli, Verónica T., Daniels, Richard W., Godoy, Ruth, Hoyle, Diego J., Kandachar, Vasundhara, Starcevic, Marta, Martinez-Agosto, Julian A., Poole, Stephen, DiAntonio, Aaron, Lloyd, Vett K., Chang, Henry C., Krantz, David E., Dell'Angelica, Esteban C.
Published in Human molecular genetics (01.03.2010)
Published in Human molecular genetics (01.03.2010)
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Journal Article
BLOC-1, a Novel Complex Containing the Pallidin and Muted Proteins Involved in the Biogenesis of Melanosomes and Platelet-dense Granules
Falcón-Pérez, Juan M., Starcevic, Marta, Gautam, Rashi, Dell'Angelica, Esteban C.
Published in The Journal of biological chemistry (02.08.2002)
Published in The Journal of biological chemistry (02.08.2002)
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Journal Article
Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation
Hoyle, Diego J., Rodriguez-Fernandez, Imilce A., Dell'Angelica, Esteban C.
Published in Pigment cell and melanoma research (01.04.2011)
Published in Pigment cell and melanoma research (01.04.2011)
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Journal Article
Biogenesis of Lysosome-Related Organelles Complex 3 (BLOC-3): A Complex Containing the Hermansky-Pudlak Syndrome (HPS) Proteins HPS1 and HPS4
Nazarian, Ramin, Falcón-Pérez, Juan M., Dell'Angelica, Esteban C.
Published in Proceedings of the National Academy of Sciences - PNAS (22.07.2003)
Published in Proceedings of the National Academy of Sciences - PNAS (22.07.2003)
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Journal Article