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The Respiratory Phenotype of Pompe Disease Mouse Models.

Publication ,  Journal Article
Fusco, AF; McCall, AL; Dhindsa, JS; Zheng, L; Bailey, A; Kahn, AF; ElMallah, MK
Published in: Int J Mol Sci
March 24, 2020

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.

Duke Scholars

Published In

Int J Mol Sci

DOI

EISSN

1422-0067

Publication Date

March 24, 2020

Volume

21

Issue

6

Location

Switzerland

Related Subject Headings

  • Respiration
  • Phenotype
  • Mice
  • Glycogen Storage Disease Type II
  • Disease Models, Animal
  • Chemical Physics
  • Animals
  • 3404 Medicinal and biomolecular chemistry
  • 3107 Microbiology
  • 3101 Biochemistry and cell biology
 

Citation

APA
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ICMJE
MLA
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Fusco, A. F., McCall, A. L., Dhindsa, J. S., Zheng, L., Bailey, A., Kahn, A. F., & ElMallah, M. K. (2020). The Respiratory Phenotype of Pompe Disease Mouse Models. Int J Mol Sci, 21(6). https://doi.org/10.3390/ijms21062256
Fusco, Anna F., Angela L. McCall, Justin S. Dhindsa, Lucy Zheng, Aidan Bailey, Amanda F. Kahn, and Mai K. ElMallah. “The Respiratory Phenotype of Pompe Disease Mouse Models.Int J Mol Sci 21, no. 6 (March 24, 2020). https://doi.org/10.3390/ijms21062256.
Fusco AF, McCall AL, Dhindsa JS, Zheng L, Bailey A, Kahn AF, et al. The Respiratory Phenotype of Pompe Disease Mouse Models. Int J Mol Sci. 2020 Mar 24;21(6).
Fusco, Anna F., et al. “The Respiratory Phenotype of Pompe Disease Mouse Models.Int J Mol Sci, vol. 21, no. 6, Mar. 2020. Pubmed, doi:10.3390/ijms21062256.
Fusco AF, McCall AL, Dhindsa JS, Zheng L, Bailey A, Kahn AF, ElMallah MK. The Respiratory Phenotype of Pompe Disease Mouse Models. Int J Mol Sci. 2020 Mar 24;21(6).

Published In

Int J Mol Sci

DOI

EISSN

1422-0067

Publication Date

March 24, 2020

Volume

21

Issue

6

Location

Switzerland

Related Subject Headings

  • Respiration
  • Phenotype
  • Mice
  • Glycogen Storage Disease Type II
  • Disease Models, Animal
  • Chemical Physics
  • Animals
  • 3404 Medicinal and biomolecular chemistry
  • 3107 Microbiology
  • 3101 Biochemistry and cell biology