The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Dimitriou, Evangelia; Cozar, Monica; Mavridou, Irene; Grinberg, Daniel; Vilageliu, Lluïsa; Michelakakis, Helen.
; 25: 57-64, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26108647
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease.
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.
Endothelial cell dysfunction in globoid cell leukodystrophy.
Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease.
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.