Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease

Krabbe Disease (KD) is an autosomal recessive disorder that results from loss-of-function mutations in the GALC gene, which encodes lysosomal enzyme galactosylceramidase (GALC). Functional deficiency of GALC is toxic to myelin-producing cells, which leads to progressive demyelination in both the cen...

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Detalles Bibliográficos
Autores principales: Iacono, Diego, Koga, Shunsuke, Peng, Hui, Manavalan, Arulmani, Daiker, Jessica, Castanedes-Casey, Monica, Martin, Nicholas B., Herdt, Aimee R., Gelb, Michael H., Dickson, Dennis W., Lee, Chris W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474820/
https://www.ncbi.nlm.nih.gov/pubmed/36113749
http://dx.doi.org/10.1016/j.nbd.2022.105862

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