Damaris Lorenzo, Ph.D.
Contact information
1112 BRB II/III
421 Curie Boulevard
Philadelphia, PA 19104-6058
Office: 215-898-7886
Fax: 215-898-9871
Email: damaris.lorenzo@pennmedicine.upenn.edu
Graduate Group Affiliations
Education
B.Sc. (Biochemistry) University of Havana, Havana, Cuba.
Ph.D. (Molecular, Cell, Developmental Biology and Genetics) University of Minnesota
Lab website
Description of Research Expertise
Research Interests
Genetics, cellular and molecular mechanisms of diseases of the nervous system and metabolic disorders.
Key Words
Cytoskeleton, membrane adaptors, intracellular transport, axon biology, synapses, neurogenetics, neurobiology of disease, neurodevelopmental disorders, cerebellar disorders, diabetes, bioenergetics, skeletal muscle disorders, mouse models of disease.
Research Description
The long-standing interest of our group is to understand how membrane and cytoskeleton adaptors modulate cellular processes to maintain homeostasis and how their dysregulation leads to disease. We are particularly interested in the role of these adaptors in brain development and bioenergetic regulation. Our research sits at the interface of human genetics, animal physiology, cell biology, and biochemistry. We use mouse, fly, and differentiated human iPSC models to decode the cellular and molecular mechanisms of protein adaptors in normal states and how they are functionally disrupted by pathogenic human variants. Our goal is to translate genetic information into pathophysiologic mechanisms that inform diagnosis and therapeutic approaches. Some of the techniques routinely used by our team include live and high-resolution microscopy, biochemistry, cellular assays, and proteomics, combined with advanced molecular methods, multiple imaging and behavioral modalities, and gene profiling in animal models of disease.
Selected Publications
Creighton BA, Afriyie S, Ajit D, Casingal CR, Voos KM, Reger J, Burch AM, Dyne E, Bay JC, Huang J, Anton ES, Fu MM, Lorenzo DN. (2021) Giant ankyrin-B mediates transduction of axon guidance and collateral branch pruning factor sema 3A. eLife. e69815.
Cousin MA, Creighton BA, …. Lorenzo DN. (2021) Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nature Genetics. 53:1006–21.
Lorenzo DN. (2020). Cargo delivery and hold: Ankyrins, spectrins, and the functional patterning of neurons. Cytoskeleton (Hoboken). 77(3–4):129–48.
Lorenzo DN, Badea Alexandra, Zhou R, Mohler PJ, Zhuang X, Bennett V.* (2019) βII-spectrin promotes mouse brain connectivity through stabilizing axonal plasma membranes and enabling axonal organelle transport. Proc. Natl. Acad. Sci. U.S.A. 116(31):15686–95.
Snouwaert JN, Church R, Jania L, Nguyen M, Wheeler M, Saintsing A, Mieczkowski P, de Villena FPM, Armao D, Moy SS, Lorenzo DN, Koller BH. (2018) A mutation in the Borcs7 subunit of the lysosome regulatory BORC complex results in motor deficits and dystrophic axonopathy in mice. Cell Reports. 24(5):1254–65.
Lorenzo DN, Bennett V. (2017) Cell-autonomous adiposity through increased cell surface GLUT4 due to ankyrin-B deficiency. Proc. Natl. Acad. Sci. U.S.A. 14 (48) 12743–748.