Ontology highlight
ABSTRACT:
SUBMITTER: Castelvetri LC
PROVIDER: S-EPMC3690521 | biostudies-literature | 2011 Jul
REPOSITORIES: biostudies-literature
Castelvetri Ludovico Cantuti LC Givogri Maria Irene MI Zhu Hongling H Smith Benjamin B Lopez-Rosas Aurora A Qiu Xi X van Breemen Richard R Bongarzone Ernesto Roque ER
Acta neuropathologica 20110304 1
Loss-of-function of the lysosomal enzyme galactosyl-ceramidase 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 towards understanding the progression of axonal defects in this disease using the Twitcher mutant mouse. Axonal swellings were detected in axons within the mutant spinal cord as early as 1 week after birth. A ...[more]