Julio Sanmiguel
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Julio Sanmiguel has a total of 9 co-authors. Here are the top co-authors by number of shared publications:
- Constance M. Moore
Department of Psychiatry, UMass Medical School, Worcester, MA, USA
1 shared publication - Danning Li
Horae Gene Therapy Center, University of Massachusetts, Worcester, Massachusetts, USA
1 shared publication Dominic J. Gessler
Department of Microbiology and Physiological Systems
1 shared publication- Guangping Gao
Horae Gene Therapy Center, University of Massachusetts Chan Medical School, Worcester, USA
1 shared publication - Hongxia Xu
Department of Reproductive Medicine, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China; The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China; NHC Key Laboratory of Preconception Health Birth in Western China, China
1 shared publication - Jean A. King
Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA 01655, USA
1 shared publication
Latest Publications
- Open Access
- 9 February 2017
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 2 (3) , e90807
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease
Canavan disease (CD) is a debilitating and lethal leukodystrophy caused by mutations in the aspartoacylase ( ASPA ) gene and the resulting defect in N -acetylaspartate (NAA) metabolism in the CNS and peripheral tissues. Recombinant adeno-associated virus (rAAV) has the ability to cross the blood-brain barrier and widely transduce the CNS. We developed a rAAV-based and optimized gene replacement therapy, which achieves early, complete, and sustained rescue of the lethal disease phenotype in CD mice. Our treatment results in a super-mouse phenotype, increasing motor performance of treated CD mice beyond that of WT control mice. We demonstrate that this rescue is oligodendrocyte independent, and that gene correction in astrocytes is sufficient, suggesting that the establishment of an astrocyte-based alternative metabolic sink for NAA is a key mechanism for efficacious disease rescue and the super-mouse phenotype. Importantly, the use of clinically translatable high-field imaging tools enables the noninvasive monitoring and prediction of therapeutic outcomes for CD and might enable further investigation of NAA-related cognitive function.
- 9 February 2017
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 2 (3) , e90807
Open AccessRedirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease
Canavan disease (CD) is a debilitating and lethal leukodystrophy caused by mutations in the aspartoacylase ( ASPA ) gene and the resulting defect in N -acetylaspartate (NAA) metabolism in the CNS and peripheral tissues. Recombinant adeno-associated virus (rAAV) has the ability to cross the blood-brain barrier and widely transduce the CNS. We developed a rAAV-based and optimized gene replacement therapy, which achieves early, complete, and sustained rescue of the lethal disease phenotype in CD mice. Our treatment results in a super-mouse phenotype, increasing motor performance of treated CD mice beyond that of WT control mice. We demonstrate that this rescue is oligodendrocyte independent, and that gene correction in astrocytes is sufficient, suggesting that the establishment of an astrocyte-based alternative metabolic sink for NAA is a key mechanism for efficacious disease rescue and the super-mouse phenotype. Importantly, the use of clinically translatable high-field imaging tools enables the noninvasive monitoring and prediction of therapeutic outcomes for CD and might enable further investigation of NAA-related cognitive function.