Jill A. Rafael-Fortney 

Associate Professor
Department of Molecular and Cellular Biochemistry

Degree: University of Michigan
Post-doctoral Training: University of Oxford

Contact Information
410A Hamilton Hall
1645 Neil Avenue
Columbus, OH  43210
PHONE: (614) 292-7043
FAX: (614) 292-4118
E-MAIL: Rafael.1@osu.edu

Link to NLM PubMed publications list for Jill A. Rafael-Fortney (last 10 years)

Research Area:

Pathogenesis of neuromuscular diseases, including Duchenne muscular dystrophy.

Current Research:

Studies of transgenic and knockout mouse models have provided great insight into the role of dystrophin and utrophin in skeletal muscle.  Despite their underlying muscle pathology, dystrophin-deficient mdx mice show no overt pathology.  However, mice lacking both dystrophin and the dystrophin-related protein utrophin show the phenotypic characteristics of Duchenne muscular dystrophy including a greatly reduced lifespan.  This doubly mutant mouse has been further used to study the functional domains of the dystrophin protein.  These studies have shown novel functions of dystrophin in addition to those already identified.  These and other studies have also shown the involvement of the post-synaptic membrane of the neuromuscular junction in neuromuscular diseases.

Functions for very few of the proteins at the post-synaptic membrane have been found, although an ever-increasing number of proteins are being shown to localize to this site in skeletal muscle.  Several proteins containing PDZ protein domains are localized to the post-synatpic membrane.  One of these proteins, mD1g, together with its neuronal-specific homologues have been shown to play important roles in clustering channels in the mammalian central nervous system. Studies using transgenic mouse approaches will be used to define the roles of mD1g and other PDZ domain-containing proteins at the neuromuscular junction.