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...

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Main Authors: Lee, Wing C., Kang, Dongcheul, Causevic, Ena, Herdt, Aimee R., Eckman, Elizabeth A., Eckman, Christopher B.
Formato: Artigo
Idioma:Inglês
Publicado: Society for Neuroscience 2010
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Articles
Acceso en liña: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
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