With a $68,000 grant from FRAXA Research Foundation from 2001-2002, Dr. Lynne Regan at Yale University studied different protein shapes and how they contributed towards different functions for Fragile X syndrome. Results published.
Structure of FMRP
Dr. Lynne Regan is an expert in the 3-dimensional structure of proteins. This kind of research is fundamental to understanding how proteins function and how mutations in particular parts of a protein can altar its function.
In the case of FMRP, the Fragile X protein, there are several functional domains. It appears that each functional domain does something different, which may explain why FMRP appears to have several different functions in the brain. It is critical to understand these various functions if we hope to compensate for the loss of FMRP. Dr. Regan has studied several of the sections of FMRP which bind to other proteins and mRNAs.
Publication: Valverde R, Pozdnyakova I, Kajander T,Venkatraman J, Regan L. 2007 Fragile X, Structure of the KH1-KH2 Domains of Fragile X Protein, Structure, 15:1090-1098. PDF
