Wordt geladen...
Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones
Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative, lysosomal storage disease caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity. Of the >70 disease-causing mutations in the GALC gene, most are located outside of the catalytic domain...
Bewaard in:
| Hoofdauteurs: | , , , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Society for Neuroscience
2010
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3278277/ https://ncbi.nlm.nih.gov/pubmed/20410102 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.6383-09.2010 |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|