Paul Hagerman, M.D., Ph.D. - IDDRC Investigator
Distinguished Professor, Department of Biochemistry and Molecular Medicine, Investigator, MIND Institute, UC Davis School of Medicine
University of California, Davis
One Shields Avenue, 4455 Tupper Hall
Davis, CA 95616
Phone: 530-754-7266 / Fax: 530-754-7269
Areas of Interest
Fragile X Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome, Premutation, FMR1 Gene, Neurodegeneration
Dr. Paul Hagerman is a molecular geneticist with a principal interest in understanding the basis for neurodevelopmental and neurodegenerative diseases. In particular, the Hagerman lab has made a number of important observations related to the mechanism of gene expression of the fragile X (FMR1) gene. Mutations of the FMR1 gene give rise to fragile X syndrome, the leading heritable form of mental impairment and autism, and premutation-related disorders, such as fragile X-associated tremor/ataxia syndrome (FXTAS). With features of Parkinsonism and dementia, FXTAS represents a model system for understanding the basic cell mechanisms underlying more common disorders such as Parkinson’s and Alzheimer’s diseases.
Current IDDRC Projects
- Expression of the fragile X gene, NICHD/NIH, R01 HD040661
Recent Representative Publications
Ludwig AL, Espinal GM, Pretto D, Jamal AL, Arque G, Tassone F, Berman RF & Hagerman PJ (2014) CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size. Human Molecular Genetics In Press. doi:10.1093/hmg/ddu032.
Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F & Hagerman PJ (2013) Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene. Genome Research 23:121-128.
Hagerman R & Hagerman P (2013) Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurology 12:786-798.
Liu J, Koscielska KA, Cao Z, Hulsizer S, Grace N, Mitchell G, Nacey C, Githinji J, McGee J, Garcia-Arocena D, Hagerman RJ, Nolta J, Pessah IN, Hagerman PJ (2012) Signaling defects in iPSC-derived fragile X premutation neurons. Human Molecular Genetics 21:3795-805.
Hoem G, Raske CR, Garcia-Arocena D, Tassone F, Sanchez E, Ludwig AL, Iwahashi CK, Kumar M, Yang JE & Hagerman PJ (2011) CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Human Molecular Genetics 20:2161-2170.