Defects in lysosomal trafficking

Definition:

Defects in lysosomal trafficking are lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. Niemann-Pick type C leads to lysosomal storage of unesterified cholesterol and gangliosides. Mucolipidosis II/III are diseases of lysosomal protein trafficking. Mucolipidosis IV affects the LDL-receptor mediated endocytosis pathway. Hermansky-Pudlak syndrome and Chediak-Higashi syndrome are disorders of vesicle formation and trafficking.

References:

[1]. S M Jansen, et al. Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis. J Inherit Metab Dis. 2001 Oct;24(5):577-86. [Content Brief]

[2]. Thomas Dierks, et al. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim Biophys Acta. 2009 Apr;1793(4):710-25. [Content Brief]

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