The molecular basis of lysosomal storage diseases and their treatment

作者: B. Winchester , A. Vellodi , E. Young

DOI: 10.1042/BST0280150

关键词: TFEBEnzyme replacement therapyMannose 6-phosphate receptorTransplantationIntracellularCatabolismBiologySubstrate reduction therapyLysosomal storage diseaseBiochemistry

摘要: The lysosomal system is the main intracellular mechanism for catabolism of naturally occurring endogenous and exogenous macromolecules subsequent recycling their constituent monomeric components. It also plays an important part in processing essential metabolites. A genetic defect a protein responsible maintaining results accumulation within lysosomes partially degraded molecules, initial step process leading to storage disease. defective can be luminal enzyme or cofactor, membrane involved post-translational modification transport proteins. Over 40 diseases are known they have collective incidence ≈ 1 7000–8000 live births. Most genes proteins been cloned, permitting mutation analysis individual cases. This information used genotype/phenotype correlation, counselling selection patients novel forms therapy, such as substrate deprivation dispersal, replacement, bone-marrow transplantation gene transfer.

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