The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C

Biochem Soc Trans. 2023 Oct 16:BST20220711. doi: 10.1042/BST20220711. Online ahead of print.ABSTRACTLysosomal storage diseases are inborn errors of metabolism that arise due to loss of function mutations in genes encoding lysosomal enzymes, protein co-factors or lysosomal membrane proteins. As a consequence of the genetic defect, lysosomal function is impaired and substrates build up in the lysosome leading to 'storage'. A sub group of these disorders are the sphingolipidoses in which sphingolipids accumulate in the lysosome. In this review, I will discuss how the study of these rare lysosomal disorders reveals unanticipated links to other rare and common human diseases using Niemann-Pick disease type C as an example.PMID:37844193 | DOI:10.1042/BST20220711

Source: Biochemical Society Transactions - October 16, 2023 Category: Biochemistry Authors: Frances M Platt Source Type: research