Selected Grantee Publications
- Clear All
- 2 results found
- niams
- nibib
- Neurological
PGRN Deficiency Exacerbates, Whereas a Brain Penetrant PGRN Derivative Protects, GBA1 Mutation–Associated Pathologies and Diseases
Zhao et al., Proc Natl Acad Sci USA. 2023.
https://www.pnas.org/doi/10.1073/pnas.2210442120
Mutations in GBA1 are associated with Gaucher disease (GD) and are also genetic risks in developing Parkinson’s disease (PD). Investigators created a mouse model and demonstrated that progranulin (PGRN) deficiency in Gba1 mutant mice caused early onset and exacerbated GD phenotypes, leading to substantial increases in substrate accumulation and inflammation in visceral organs and the central nervous system. These in vivo and ex vivo data demonstrated that PGRN plays a crucial role in the initiation and progression. In addition, the mouse model provides a clinically relevant system for testing therapeutic approaches for GD and PD. Supported by ORIP (R21OD033660), NIAMS, and NINDS.
MRI Characteristics of Japanese Macaque Encephalomyelitis (JME): Comparison to Human Diseases
Tagge et al., Journal of Neuroimaging. 2021.
https://onlinelibrary.wiley.com/doi/10.1111/jon.12868
Magnetic resonance imaging data (MRI) were obtained from 114 Japanese macaques, including 30 animals of both sexes that presented with neurological signs of Japanese macaque encephalomyelitis (JME). Quantitative estimates of blood-brain barrier permeability to gadolinium-based-contrast agent (GBCA) were obtained in acute, GBCA-enhancing lesions, and longitudinal imaging data were acquired for 15 JME animals. Intense, focal neuroinflammation was a key MRI finding in JME. Several features of JME compare directly to human inflammatory demyelinating diseases. The development and validation of noninvasive imaging biomarkers in JME provides the potential to improve diagnostic specificity and contribute to the understanding of human demyelinating diseases. Supported by ORIP (P51OD011092, S10OD018224), NINDS, and NIBIB.