- Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure-function studies associated with cerebellar Purkinje cell degenerationShannon L Macauley
Neuroscience, Genzyme Corporation, Framingham, MA 01701, USA
Exp Neurol 214:181-92. 2008..This study further characterized the neuropathology associated with ASM deficiency, and identifies quantitative histological and behavioral endpoints for evaluation of therapeutic intervention in this authentic NP-A mouse model...
- AAV vector-mediated correction of brain pathology in a mouse model of Niemann-Pick A diseaseMarco A Passini
Neuroscience, Genzyme Corporation, One Mountain Road, Framingham, MA 01701, USA
Mol Ther 11:754-62. 2005..These findings show that the ASMKO brain is responsive to ASM replacement and that retrograde transport of AAV2 functions as a platform for widespread gene delivery and reversal of pathology in affected brain...