The Respiratory Phenotype of Pompe Disease Mouse Models
Department of Pediatrics, School of Medicine, Duke University, Durham, NC 27707, USA
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Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(6), 2256; https://doi.org/10.3390/ijms21062256
Received: 21 January 2020
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Revised: 19 March 2020
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Accepted: 20 March 2020
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Published: 24 March 2020
(This article belongs to the Special Issue Biogenesis and Functional Roles of Lysosomes: Their Implications for the Pathogenesis and Therapy of Human Diseases)
Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse models provide a means of assessing respiratory pathology and are important for pre-clinical studies of novel therapies that aim to treat respiratory dysfunction and improve quality of life. This review aims to compile and summarize existing manuscripts that characterize the respiratory phenotype of Pompe mouse models. Manuscripts included in this review were selected utilizing specific search terms and exclusion criteria. Analysis of these findings demonstrate that Pompe disease mouse models have respiratory physiological defects as well as pathologies in the diaphragm, tongue, higher-order respiratory control centers, phrenic and hypoglossal motor nuclei, phrenic and hypoglossal nerves, neuromuscular junctions, and airway smooth muscle. Overall, the culmination of these pathologies contributes to severe respiratory dysfunction, underscoring the importance of characterizing the respiratory phenotype while developing effective therapies for patients.
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Keywords:
pompe disease; breathing; respiratory
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MDPI and ACS Style
Fusco, A.F.; McCall, A.L.; Dhindsa, J.S.; Zheng, L.; Bailey, A.; Kahn, A.F.; ElMallah, M.K. The Respiratory Phenotype of Pompe Disease Mouse Models. Int. J. Mol. Sci. 2020, 21, 2256. https://doi.org/10.3390/ijms21062256
AMA Style
Fusco AF, McCall AL, Dhindsa JS, Zheng L, Bailey A, Kahn AF, ElMallah MK. The Respiratory Phenotype of Pompe Disease Mouse Models. International Journal of Molecular Sciences. 2020; 21(6):2256. https://doi.org/10.3390/ijms21062256
Chicago/Turabian StyleFusco, Anna F., Angela L. McCall, Justin S. Dhindsa, Lucy Zheng, Aidan Bailey, Amanda F. Kahn, and Mai K. ElMallah. 2020. "The Respiratory Phenotype of Pompe Disease Mouse Models" International Journal of Molecular Sciences 21, no. 6: 2256. https://doi.org/10.3390/ijms21062256
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