Pompe Disease: New Developments in an Old Lysosomal Storage Disorder
| Autor: | Nina Raben, Naresh K Meena |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
autophagy muscle Genetic enhancement lcsh:QR1-502 Disease Review Biochemistry lcsh:Microbiology 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Lysosome Glycogen storage disease type II medicine Humans Enzyme Replacement Therapy Myopathy Muscle Skeletal Molecular Biology satellite cells Glycogen business.industry Glycogen Storage Disease Type II Autophagy Pompe disease alpha-Glucosidases Enzyme replacement therapy Genetic Therapy medicine.disease gene therapy Lysosomal Storage Diseases 030104 developmental biology medicine.anatomical_structure chemistry Immunology lysosome medicine.symptom business Lysosomes 030217 neurology & neurosurgery lysosomal targeting |
| Zdroj: | Biomolecules Biomolecules, Vol 10, Iss 1339, p 1339 (2020) |
| ISSN: | 2218-273X |
| Popis: | Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic. |
| Databáze: | OpenAIRE |
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