Article
Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease.
Nature communications - 23 Oct 2020
Weinstock Nadav I, Kreher Conlan, Favret Jacob, Nguyen Duc, Bongarzone Ernesto R, Wrabetz Lawrence, Feltri M Laura, Shin Daesung
Abstract excerpt
Krabbe disease (KD) is caused by a deficiency of galactosylceramidase (GALC), which induces demyelination and neurodegeneration due to accumulation of cytotoxic psychosine. Hematopoietic stem cell transplantation (HSCT) improves clinical outcomes in KD patients only if delivered pre-symptomatically. Here, we hypothesize that the restricted temporal efficacy of HSCT reflects a requirement for GALC in early brain...
Topics
- Animals
- Brain Stem
- Disease Models, Animal
- Galactosylceramidase
- Gene Expression Regulation, Developmental
- Hematopoietic Stem Cell Transplantation
- Humans
- Leukodystrophy, Globoid Cell
- Mice
- Mice, Inbred C57BL
- Mice, Knockout
- Neurons
- Phenotype