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Esteban C. Dell'Angelica got his Ph.D. 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, Ph.D., 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 he 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 junior faculty 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.
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C A Ghiani, M Starcevic,I A Rodriguez-Fernandez, R Nazarian,V T Cheli, L N Chan, J S Malvar,J de Vellis,C Sabatti,E C Dell'Angelica
Molecular Psychiatryno. 2 (2009): 204-215
Journal of inherited metabolic diseaseno. 2 (2009): 190-203
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Pigment cell researchno. 2 (2002)
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