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
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 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
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
Carrier screening for Krabbe disease in an isolated inbred community.
Ezer S et al.
American Journal of Medical Genetics. Part A, 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
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Gopal RK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
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
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010