Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?
Papini N et al.
Neuroscience, 2025
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
A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.
He Z et al.
Neurocase, 2022
Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes.
Mangiameli E et al.
Stem Cell Reports, 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
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero ML et al.
Orphanet Journal of Rare Diseases, 2019
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
Jang DS et al.
Journal of Neuroscience Research, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
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
A high-throughput screening assay using Krabbe disease patient cells.
Ribbens J et al.
Analytical Biochemistry, 2013
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
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