Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
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
Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.
Placci M et al.
Advanced Drug Delivery Reviews, 2023
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S et al.
Neurogenetics, 2022
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.
Cachón-González MB et al.
Human Molecular Genetics, 2021
Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy.
Feltri ML et al.
Glia, 2021
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
Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.
Nasir G et al.
Frontiers in Medicine, 2021
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.
Won JS et al.
Journal of Neuroscience Research, 2016
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease.
Weinstock NI et al.
Journal of Neuroscience Research, 2016
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.
Spratley SJ et al.
Journal of Neuroscience Research, 2016
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
Neuroimmune mechanisms in Krabbe's disease.
Potter GB et al.
Journal of Neuroscience Research, 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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
From sheep to mice to cells: tools for the study of the sphingolipidoses.
Zigdon H et al.
Biochimica Et Biophysica Acta, 2014
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.
Berardi AS et al.
Molecular Genetics and Metabolism, 2014
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.
Potter GB et al.
Human Molecular Genetics, 2013
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010