S Pablo Sardi
Affiliation: Genzyme Corporation
- Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for Parkinsonism and other Gaucher-related synucleinopathiesS Pablo Sardi
Genzyme, a Sanofi Company, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 110:3537-42. 2013..Hence, increasing glucocerebrosidase activity in the CNS represents a potential therapeutic strategy for GBA1-related and non-GBA1-associated synucleinopathies, including PD...
- Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse modelsS Pablo Sardi
Genzyme, Sanofi Company, Framingham, Mass 01701, USA
Neurodegener Dis 10:195-202. 2012..In summary, several leads connecting GBA1 mutations with α-synuclein misprocessing have emerged as potential targets for the treatment of GBA1-related synucleinopathies, and possibly, for non-GBA1-associated neurodegenerative diseases...
- CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathyS Pablo Sardi
Genzyme Corporation, Framingham, MA 01701, USA
Proc Natl Acad Sci U S A 108:12101-6. 2011....
- Gene transfer to the CNS is efficacious in immune-primed mice harboring physiologically relevant titers of anti-AAV antibodiesChristopher M Treleaven
Genzyme, a Sanofi Company, Framingham, Massachusetts 01701 9322, USA
Mol Ther 20:1713-23. 2012..These findings support the continued development of AAV-based therapies for the treatment of neurological disorders...
- Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophyMarco A Passini
Genzyme Corporation, 49 New York Avenue, Framingham, MA 01701, USA
Sci Transl Med 3:72ra18. 2011..These data demonstrate that central nervous system-directed ASO therapy is efficacious and that intrathecal infusion may represent a practical route for delivering this therapeutic in the clinic...
- CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophyMarco A Passini
Genzyme Corporation, 49 New York Avenue, Room 2410, Framingham, MA 01701, USA
J Clin Invest 120:1253-64. 2010..These data indicate that CNS-directed, AAV-mediated SMN augmentation is highly efficacious in addressing both neuronal and muscular pathologies in a severe mouse model of SMA...