Lysosomal Storage Diseases: From Pathophysiology to Therapy
| العنوان: | Lysosomal Storage Diseases: From Pathophysiology to Therapy |
|---|---|
| المؤلفون: | Generoso Andria, Andrea Ballabio, Giancarlo Parenti |
| المساهمون: | Parenti, Giancarlo, Andria, G, Ballabio, Andrea |
| المصدر: | Annual Review of Medicine. 66:471-486 |
| بيانات النشر: | Annual Reviews, 2015. |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | Genetic enhancement, medicine.medical_treatment, Hematopoietic Stem Cell Transplantation, Genetic Therapy, General Medicine, Enzyme replacement therapy, Hematopoietic stem cell transplantation, Biology, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Pathophysiology, Lysosomal Storage Diseases, Pharmacological chaperone, Immunology, medicine, Residual activity, Humans, Enzyme Replacement Therapy, Substrate reduction therapy, Flux (metabolism), Molecular Chaperones, medicine.drug |
| الوصف: | Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal function and by intralysosomal accumulation of undegraded substrates. The past 25 years have been characterized by remarkable progress in the treatment of these diseases and by the development of multiple therapeutic approaches. These approaches include strategies aimed at increasing the residual activity of a missing enzyme (enzyme replacement therapy, hematopoietic stem cell transplantation, pharmacological chaperone therapy and gene therapy) and approaches based on reducing the flux of substrates to lysosomes. As knowledge has improved about the pathophysiology of lysosomal storage diseases, novel targets for therapy have been identified, and innovative treatment approaches are being developed. |
| تدمد: | 1545-326X 0066-4219 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d745789a4fd4b7b1eff4bfb9c6cec436Test https://doi.org/10.1146/annurev-med-122313-085916Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....d745789a4fd4b7b1eff4bfb9c6cec436 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 1545326X 00664219 |
|---|