Usage Information
Citation Information: JCI Insight. 2023;8(16):e170199. https://doi.org/10.1172/jci.insight.170199.
Abstract
Gene therapy is under advanced clinical development for several lysosomal storage disorders. Pompe disease, a debilitating neuromuscular illness affecting infants, children, and adults with different severity, is caused by a deficiency of lysosomal glycogen-degrading enzyme acid α-glucosidase (GAA). Here, we demonstrated that adeno-associated virus–mediated (AAV-mediated) systemic gene transfer reversed glycogen storage in all key therapeutic targets — skeletal and cardiac muscles, the diaphragm, and the central nervous system — in both young and severely affected old Gaa-knockout mice. Furthermore, the therapy reversed secondary cellular abnormalities in skeletal muscle, such as those in autophagy and mTORC1/AMPK signaling. We used an AAV9 vector encoding a chimeric human GAA protein with enhanced uptake and secretion to facilitate efficient spread of the expressed protein among multiple target tissues. These results lay the groundwork for a future clinical development strategy in Pompe disease.
Authors
Naresh K. Meena, Davide Randazzo, Nina Raben, Rosa Puertollano
Usage data is cumulative from December 2023 through December 2024.
| Usage | JCI | PMC |
|---|---|---|
| Text version | 1,254 | 426 |
| 396 | 159 | |
| Figure | 353 | 11 |
| Table | 35 | 0 |
| Supplemental data | 93 | 15 |
| Citation downloads | 65 | 0 |
| Totals | 2,196 | 611 |
| Total Views | 2,807 | |
Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.
Various methods are used to distinguish robotic usage. For example, Google automatically scans articles to add to its search index and identifies itself as robotic; other services might not clearly identify themselves as robotic, or they are new or unknown as robotic. Because this activity can be misinterpreted as human readership, data may be re-processed periodically to reflect an improved understanding of robotic activity. Because of these factors, readers should consider usage information illustrative but subject to change.
