Immune dysfunction in Niemann‐Pick disease type C - Platt - 2016 - Journal of Neurochemistry - Wiley Online Library
Descrição
Miglustat in Niemann-Pick disease type C patients: a review, Orphanet Journal of Rare Diseases
Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina - Kurzawa‐Akanbi - 2022 - Journal of Extracellular Vesicles - Wiley Online Library
Critical role for glycosphingolipids in Niemann-Pick disease type C: Current Biology
Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina - Kurzawa‐Akanbi - 2022 - Journal of Extracellular Vesicles - Wiley Online Library
Lysoglycosphingolipids have the ability to induce cell death through direct PI3K inhibition - Watanabe - Journal of Neurochemistry - Wiley Online Library
The use of pharmacological chaperones in rare diseases caused by reduced protein stability - Gil‐Martínez - 2022 - PROTEOMICS - Wiley Online Library
Impact of the Niemann–Pick c1 Gene Mutation on the Total Cellular Glycomics of CHO Cells
Contribution of ceramides metabolism in psychiatric disorders - Bernal‐Vega - 2023 - Journal of Neurochemistry - Wiley Online Library
IJMS, Free Full-Text
PDF) Zoledronate derivatives as potential inhibitors of uridine diphosphate-galactose ceramide galactosyltransferase 8: A combined molecular docking and dynamic study
Impact of the Niemann–Pick c1 Gene Mutation on the Total Cellular Glycomics of CHO Cells
Retinal pigment epithelium extracellular vesicles are potent inducers of age‐related macular degeneration disease phenotype in the outer retina - Kurzawa‐Akanbi - 2022 - Journal of Extracellular Vesicles - Wiley Online Library
Current concepts in the neuropathogenesis of mucolipidosis type IV - Boudewyn - 2019 - Journal of Neurochemistry - Wiley Online Library
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