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Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity
Globoid cell leukodystrophy (GLD, Krabbe disease) is due to autosomal recessive mutations in the lysosomal enzyme galactosylceramidase (GALC). Many GLD patients develop infantile-onset of progressive neurologic deterioration and death by 2 years of age, whereas others have a later-onset, milder dise...
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| Publicado no: | J Neurosci |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Society for Neuroscience
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4748072/ https://ncbi.nlm.nih.gov/pubmed/26865610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3095-15.2016 |
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