Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis
Autor: | Mylvaganam Jeyakumar, Raymond A. Dwek, Frances M. Platt, T D Butters |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
1-Deoxynojirimycin
Histology Morpholines G(M2) Ganglioside Biology Sandhoff disease Glucosylceramides Models Biological Glycosphingolipids Pathology and Forensic Medicine Mice chemistry.chemical_compound Gangliosides Physiology (medical) Lysosome medicine Lysosomal storage disease Animals Humans Substrate reduction therapy Bone Marrow Transplantation Tay-Sachs Disease Catabolism Tay-Sachs disease Sandhoff Disease Glycosphingolipid medicine.disease Lysosomal Storage Diseases Disease Models Animal Treatment Outcome medicine.anatomical_structure Models Chemical Neurology chemistry Chemotherapy Adjuvant Glucosyltransferases Immunology lipids (amino acids peptides and proteins) Neurology (clinical) Lysosomes |
Popis: | Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses. GSL catabolism occurs in the lysosome and a defect in an enzyme involved in GSL degradation leads to the lysosomal storage of its substrate(s). GSLs are abundantly expressed in the central nervous system (CNS) and the disorders frequently have a progressive neurodegenerative course. Our understanding of pathogenesis in these diseases is incomplete and currently few options exist for therapy. In this review we discuss how mouse models of these disorders are providing insights into pathogenesis and also leading to progress in evaluating experimental therapies. |
Databáze: | OpenAIRE |
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