Genome editing in mucopolysaccharidoses and mucolipidoses
| Autor: | Roselena Silvestri Schuh, Edina Poletto, Hallana Souza Santos, Ursula da Silveira Matte, Guilherme Baldo |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Mutation Genetic enhancement Mucolipidoses Computational biology Biology medicine.disease_cause Phosphotransferase 03 medical and health sciences 030104 developmental biology 0302 clinical medicine medicine.anatomical_structure Genome editing 030220 oncology & carcinogenesis Lysosome medicine In patient Function (biology) |
| Zdroj: | Progress in Molecular Biology and Translational Science ISBN: 9780323853019 |
| DOI: | 10.1016/bs.pmbts.2021.01.026 |
| Popis: | Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are disorders that alter lysosome function. While MPS are caused by mutation in enzymes that degrade glycosaminoglycans, the ML are disorders characterized by reduced function in the phosphotransferase enzyme. Multiple clinical features are associated with these diseases and the exact mechanisms that could explain such different clinical manifestations in patients are still unknown. Furthermore, there are no curative treatment for any of MPS and ML conditions so far. Gene editing holds promise as a tool for the creation of cell and animal models to help explain disease pathogenesis, as well as a platform for gene therapy. In this chapter, we discuss the main studies involving genome editing for MPS and the prospect applications for ML. |
| Databáze: | OpenAIRE |
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