DEPARTMENT OF DEFENSE - CONGRESSIONALLY DIRECTED MEDICAL RESEARCH PROGRAMS

The TSCRP now offers a service on our website featuring a listing of newly available TSC research resources! Our goal is to facilitate and speed TSC research by publicizing new resources and aiding collaborations. The list displays available resources and PI contact information. Please contact the PIs directly for information and requests.

Award Number PI Product or Resource References Contact Information or Link
Methods

TS060052

Mark Nellist

Assay to detect pathogenic TSC1 and TSC2 variants

Coevoets R, et al. 2009. A reliable cell-based assay for testing unclassified TSC2 gene variants. European Journal of Human Genetics EJHG 17:301-310.

Hoogeveen-Westerveld M, et al. 2011. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human Mutation 32(4):424-435.

m.nellist@erasmusmc.nl

TS030004

Bernardo Sabatini

Hippocampal pyramidal neuronal model system to analyze loss of Tsc1

Tavazoie SF, et al. 2005. Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nature Neuroscience 8(12):1727-1734.

bernardo_sabatini@hms.harvard.edu