Controversies on the potential therapeutic use of rapamycin for treating a lysosomal cholesterol storage disease
Author:
Funder
FONDECYT
European Union's Horizon 2020 Research and Innovation Programme
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology
Reference8 articles.
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3. Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from niemann-pick type C patient-specific iPS cells;Maetzel;Stem Cell Rep.,2014
4. Npc1 deficiency in the C57BL/6J genetic background enhances Niemann-Pick disease type C spleen pathology;Parra;Biochem. Biophys. Res. Commun.,2011
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2. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine;npj Genomic Medicine;2023-08-11
3. Genetic Background Matters: Population-Based Studies in Model Organisms for Translational Research;International Journal of Molecular Sciences;2022-07-08
4. Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression;Scientific Reports;2022-02-09
5. Genistein Activates Transcription Factor EB and Corrects Niemann–Pick C Phenotype;International Journal of Molecular Sciences;2021-04-19
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