Lysosomal storage diseases: from pathophysiology to therapy.
Annu Rev Med
; 66: 471-86, 2015.
Article
en En
| MEDLINE
| ID: mdl-25587658
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Terapia Genética
/
Enfermedades por Almacenamiento Lisosomal
/
Trasplante de Células Madre Hematopoyéticas
/
Terapia de Reemplazo Enzimático
Límite:
Humans
Idioma:
En
Revista:
Annu Rev Med
Año:
2015
Tipo del documento:
Article
País de afiliación:
Italia