Heterozygous carriers of galactocerebrosidase mutations that cause Krabbe disease have impaired microglial function and defective repair of myelin damage

This review addresses two puzzling findings related to mutations in galactocerebrosidase (GALC) that cause Krabbe disease (KD), a severe lysosomal storage disorder characterized by extensive myelin damage in children with mutations in both GALC alleles. First, heterozygous carriers of KD-causing mut...

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Detalles Bibliográficos
Autores principales: Scott-Hewitt, Nicole J., Folts, Christopher J., Noble, Mark D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Invited Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900492/
https://www.ncbi.nlm.nih.gov/pubmed/29623914
http://dx.doi.org/10.4103/1673-5374.228712

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900492/
https://www.ncbi.nlm.nih.gov/pubmed/29623914
http://dx.doi.org/10.4103/1673-5374.228712

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