Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions

Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of macromolecules in the late endocytic system and are caused by inherited defects in genes that encode mainly lysosomal enzymes or transmembrane lysosomal proteins. Niemann-Pick type C disease (NPCD), a LSD characteri...

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Veröffentlicht in:	Biochimica et biophysica acta. Molecular basis of disease 2020-10, Vol.1866 (10), p.165875-165875, Article 165875
Hauptverfasser:	Yañez, M.J., Marín, T., Balboa, E., Klein, A.D., Alvarez, A.R., Zanlungo, S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Brain - cytology Brain - metabolism Brain - pathology c-Abl Cholesterol Cholesterol - metabolism Gaucher Gaucher Disease - genetics Gaucher Disease - metabolism Gaucher Disease - pathology Glucosylceramidase - genetics Glucosylceramidase - metabolism Humans Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Lipid Metabolism - genetics Lysosomal storage disease Lysosome Lysosomes - metabolism Lysosomes - pathology Mutation Neurons - cytology Neurons - metabolism Neurons - pathology Niemann-Pick Niemann-Pick Disease, Type A - genetics Niemann-Pick Disease, Type A - metabolism Niemann-Pick Disease, Type A - pathology Niemann-Pick Disease, Type C - genetics Niemann-Pick Disease, Type C - metabolism Niemann-Pick Disease, Type C - pathology Signal Transduction - genetics Sphingolipids Sphingolipids - metabolism Vesicular Transport Proteins - genetics Vesicular Transport Proteins - metabolism
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