Stuck in traffic: an emerging theme in diseases of the nervous system.
Trends Neurosci
; 37(2): 66-76, 2014 Feb.
Article
en En
| MEDLINE
| ID: mdl-24411104
ABSTRACT
The past decade has seen an explosion of DNA sequencing activities and many mutations and genetic variances underlying neurological and neurodegenerative diseases have been determined. This wealth of genetic data is now placed in molecular pathways revealing the nodes that underlie the disrupted processes. Many mutations in neurological diseases affect proteins controlling endosomal/lysosomal transport. Although the age of onset of these diseases range from juvenile [i.e., Niemann-Pick type C (NPC) and Charcot-Marie-Tooth (CMT) disease] to late onset (Parkinson's and Alzheimer's disease), deregulation of endosomal transport is a common theme. This review summarizes how elucidating the genetic basis for the various neurological diseases has advanced our understanding of the endo-lysosomal system and why the various mutations all translate into similar disease phenotypes.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Transporte de Proteínas
/
Enfermedades del Sistema Nervioso
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Trends Neurosci
Año:
2014
Tipo del documento:
Article