Esteban Dell'Angelica

Esteban C Dell'angelica

Department Vice Chair, Human Genetics, Human Genetics, University of California Los Angeles

Professor, Human Genetics, University of California Los Angeles

310-206-3749

Laboratory Address:
Gonda 6554
Los Angeles, CA 90095

Office Address:
Gonda 5506B
Los Angeles, CA 90095

UC Profile

Affiliations

Member, Genetics & Genomics GPB Home Area, Human Genetics

Research Interests

The overarching goal of my research is to understand the molecular pathogenesis of monogenic disorders such as Hermansky-Pudlak syndrome (HPS). HPS comprises a group of autosomal-recessive diseases characterized by albinism and prolonged bleeding due to deficiencies in two specialized intracellular organelles: melanosomes (the site of synthesis and storage of melanin pigments) and platelet dense granules (the storage compartment for some of the molecules involved in platelet aggregation). Both melanosomes and platelet dense granules are referred to as ‘lysosome-related’ organelles. All of the genes known to be mutated in different forms of HPS encode subunits of four heteromeric, biochemically stable protein complexes: Adaptor Protein (AP)-3, and Biogenesis of Lysosome-related Organelles Complex (BLOC)-1 through -3. Using a variety of experimental approaches, including biochemical and cell biological assays as well as mouse and fly genetics, we are characterizing the biological function of these protein complexes.

Biography

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. 

For a complete list of publications, please see:

http://www.ncbi.nlm.nih.gov/pubmed/?term=Dell’Angelica%5Bauthor%5D

For a list of publications of the UDN, please see:

https://www.ncbi.nlm.nih.gov/pubmed/?term=Undiagnosed+Diseases+network%5Bcorporate+author%5D

Publications