Associated Papers
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 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
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
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
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
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