Associated Papers
Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.
Peng H et al.
The Journal of Biological Chemistry, 2025
Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.
Peng H et al.
Biorxiv : the Preprint Server for Biology, 2024
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F et al.
European Journal of Human Genetics : Ejhg, 2022
A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.
Wu G et al.
Frontiers in Neuroscience, 2022
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 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
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
Screening for Krabbe disease: The first 2 years' experience.
Pannuzzo G et al.
Acta Neurologica Scandinavica, 2019
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Bascou N et al.
Orphanet Journal of Rare Diseases, 2018
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Spratley SJ et al.
Traffic (copenhagen, Denmark), 2016
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Shin D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.
Berardi AS et al.
Molecular Genetics and Metabolism, 2014
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010