Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Impaired docking and recycling of synaptic vesicles in inherited lysosomal sphingolipidoses.
Zelada D et al.
Cell Communication and Signaling : Ccs, 2025
CRISPR-mediated correction of GALC mutations in Krabbe disease neural models - opportunities and risks.
Rahim MW et al.
Annals of Medicine and Surgery (2012), 2025
Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases.
Kell P et al.
Molecular Genetics and Metabolism, 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
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Preclinical studies in Krabbe disease: A model for the investigation of novel combination therapies for lysosomal storage diseases.
Heller G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Globoid Cell Leukodystrophy (Krabbe Disease): An Update.
Maghazachi AA
Immunotargets and Therapy, 2023
"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
CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease.
Rebiai R et al.
Frontiers in Molecular Neuroscience, 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
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA 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
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
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
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
Gucev Z et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015
Phenotypic variability of Krabbe disease across the lifespan.
Liao P et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2014
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease.
Kardas F et al.
Gene, 2013
Peripheral neuropathy in late-onset Krabbe disease: report of three cases.
Malandrini A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2013
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
Duffner PK et al.
Pediatric Neurology, 2012
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Fiumara A et al.
Clinical Genetics, 2011
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
Lissens W et al.
Human Mutation, 2007
[Krabbe disease (globoid cell leukodystrophy)].
Sakai N et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995