Ontology highlight
ABSTRACT:
SUBMITTER: Weinstock NI
PROVIDER: S-EPMC7584660 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Weinstock Nadav I NI Kreher Conlan C Favret Jacob J Nguyen Duc D Bongarzone Ernesto R ER Wrabetz Lawrence L Feltri M Laura ML Shin Daesung D
Nature communications 20201023 1
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 development. Using a novel Galc floxed allele, we induce ubiquitous GALC ablation (Ga ...[more]