Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease
SWJ McPhee, J Francis, CG Janson, T Serikawa… - Molecular brain …, 2005 - Elsevier
The tremor rat is a spontaneous epilepsy model with a seizure phenotype caused by a
deletion in the aspartoacylase (ASPA) gene. The absence of ASPA expression in these
animals results in undetectable levels of enzyme activity and the accumulation of the
substrate N-acetyl-aspartate (NAA) in brain, leading to generalized myelin vacuolation and
severe motor and cognitive impairment. In support of human gene therapy for CD,
recombinant adeno-associated viral vector (AAV-2) expressing ASPA was stereotactically …
deletion in the aspartoacylase (ASPA) gene. The absence of ASPA expression in these
animals results in undetectable levels of enzyme activity and the accumulation of the
substrate N-acetyl-aspartate (NAA) in brain, leading to generalized myelin vacuolation and
severe motor and cognitive impairment. In support of human gene therapy for CD,
recombinant adeno-associated viral vector (AAV-2) expressing ASPA was stereotactically …