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cell adhesion molecules • synapse formation and plasticity • muscular dystrophy • autism
My research focuses on synapses and how they are essential for information processing, memory storage and virtually all other brain functions. Synapses connect neurons into circuits and the formation of these connections requires adhesion molecules. Dystroglycan is a cell adhesion molecule that we discovered and that is expressed in brain and muscle. Genetic mutations that affect dystroglycan lead to muscular dystrophies and mental retardation intellectual disability. Our recent work shows that the dystroglycan is necessary for the formation of inhibitory synapses in the brain that may well contribute to mental retardationintellectual disability in patients with muscular dystrophy. We are seeking ways to treat the synaptic defects and mental retardationintellectual disability. We are also introducing into the lab and to the MUHC methods and resources for differentiating induced pluripotent stem cells into neurons. These methods will allow my lab and others to study the cellular and molecular consequences of genetic mutations within cells derived from patients with genetic diseases.
Pribiag H., Peng H., Shah W., Stellwagen D. and Carbonetto S. Activity-dependent regulation of dystroglycan is necessary for homeostatic synaptic plasticity at GABAergic synapses. Submitted.
Peng H, Shah WA, Holland PC and Carbonetto S. (2013) Integrins regulate centrosome integrity and astrocyte polarization. Devel. Neurobiol. 73:333-353. PMID: 22949126.
Gauthier J, Champagne N..et al. (2010) De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. Proc, Natl. Acad. Sci. 107:7863-8. PMID: 20385823.
Gauthier J, Siddiqui TJ, et al. (2011) Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum. Genet. 130:563-73.
Zhan Y, Melian NY, Pantoja M, Haines N, Ruohola-Baker H, Bourque CW, Rao Y, and Carbonetto S. (2010) Dystroglycan and Mitochondrial Ribosomal Protein L34 Regulate Differentiation in the Drosophila Eye. PLoS ONE 5:10488