Associated Papers
Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?
Papini N et al.
Neuroscience, 2025
An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.
Sasaki M et al.
Pathology International, 2022
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML et al.
Glia, 2021
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.
Irahara-Miyana K et al.
Human Genome Variation, 2018
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Sakai N et al.
Journal of Neuroscience Research, 2016
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
Select a paper to view details