Axonopathy is a compounding factor in the pathogenesis of Krabbe disease

Loss-of-function of the lysosomal enzyme galactosyl-ceramidase (GALC) causes the accumulation of the lipid raft-associated sphingolipid psychosine, the disruption of postnatal myelination, neurodegeneration and early death in most cases of infantile Krabbe disease. This work presents a first study t...

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Main Authors: Castelvetri, Ludovico Cantuti, Givogri, Maria Irene, Zhu, Hongling, Smith, Benjamin, Lopez-Rosas, Aurora, Qiu, Xi, van Breemen, Richard, Bongarzone, Ernesto
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3690521/
https://ncbi.nlm.nih.gov/pubmed/21373782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-011-0814-2
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