Research Projects

Studies of Fragile X Syndrome (FXS): A search for therapeutics

Fragile X Syndrome (FXS) is due to a deficiency in the ubiquitously expressed RNA-binding protein FMRP. Our foray into FXS began serendipitously with the finding that FMRP co-immunoprecipitates with the nonsense-mediated RNA decay (NMD)-activated form of the key NMD factor, UPF1, in an RNase I-resistant manner.

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Studies of Exon-Junction Complex Heterogeneity

NMD is a splicing- and translation-dependent pathway that targets not only disease-associated transcripts but also naturally occurring transcripts as a way for cells to maintain homeostasis in a changing environmental millieu  (reviewed in Maquat et al., 2010, Cell 142:368-74; Hwang and Maquat, 2011, Curr Opin Genet Dev 21:422-30; Popp and Maquat, 2013, Annu Rev Genet 47:139-65; Popp and Maquat, 2014, Mol Cells 37:1-8; Kurosaki and Maquat, 2016, J Cell Sci 129:461-7; Popp and Maquat, 2016, Cell 165:1319-22). 

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Studies on the nuclear cap-binding complex

The nuclear cap-binding complex (CBC), which consists of CBP20 and CBP80, controls gene expression in both the nucleus and the cytoplasm. For example, building on our discovery in the early 2000’s that NMD typically occurs during the pioneer round(s) of translation of CBC-bound mRNAs, we found that CBP80 facilitates NMD by interacting with UPF1 and UPF2.

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