University of South Florida

The United States Government As Represented by the Department of Veterans Affairs

Kevin Ron Nash

Edwin John Weeber

Paula Cole Bickford

Carmelina Gemma

Josh Morganti

Adam Bachstetter

Daniel C Lee

Jennifer Leigh Daily

Angelman Syndrome (AS) is a genetic disorder occurring in approximately one in every 15,000 births. It is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes for E6-AP, an ubiquitin ligase. A unique feature of this gene is that it undergoes maternal imprinting in a neuron-specific manner. In the majority of AS cases, there is a mutation or deletion in the maternally inherited UBE3A gene, although other cases are the result of uniparental disomy or mismethylation of the maternal gene. While most human disorders characterized by severe mental retardation involve abnormalities in brain structure, no gross anatomical changes are associated with AS. We have generated a Ube3a protein with additional sequences that should allow the secretion from cells and uptake by neighboring neuronal cells. This would confer a functional E6-AP protein into the neurons and rescue disease pathology.

Modified UBE3A gene for a gene therapy approach for angelman syndrome

The subject invention pertains to the use of fractalkine (FKN, CX3CL1) and its receptor CX3CR1 for treatment of neuroinflammation and/or neurodegeneration. In one embodiment, the present invention provides a method for treatment of neuroinflammation and/or neurodegenerative diseases, comprising: administering, to cells of a subject in need of such treatment, an adeno-associated virus that comprises a functional fractalkine gene operably linked to transcriptional control elements. In one embodiment, the subject invention is used to treat or ameliorate Parkinson's disease. The present invention can also be used to treat or ameliorate neuroinflammatory and/or neurodegenerative diseases including, but not limited to, Alzheimer's disease, epilepsy, aging, and traumatic brain injury.

Recombinant adeno-associated virus-mediated expression of fractalkine for treatment of neuroinflammatory and neurodegenerative diseases

The invention relates to compositions comprising arginine deiminase and their use in a method of reducing aggregation of disordered protein in a subject.

Arginine deiminase gene therapy for disordered proteins

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Seffner, FL, United States of America

Kevin Ron Nash