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• W2088373886 endingPage "539" @default.
• W2088373886 startingPage "529" @default.
• W2088373886 abstract "Complete and limited proteolysis represents key events that regulate many biological processes. At least 5% of the human genome codes for components of proteolytic processes if proteases, inhibitors, and cofactors are taken into account. Accordingly, disruption of proteolysis is involved in numerous pathological conditions. In particular, molecular genetic studies have identified a growing number of monogenic disorders caused by mutations in protease coding genes, highlighting the importance of this class of enzymes in development, organogenesis, immunity, and brain function. This review provides insights into the current knowledge about the molecular genetic causes of these disorders. It should be noted that most are due to loss of function mutations, indicating absolute requirement of proteolytic activities for normal cellular functions. Recent progress in understanding the function of the implicated proteins and the disease pathogenesis is detailed. In addition to providing important clues to the diagnosis, treatment, and pathophysiology of disease, functional characterisation of mutations in proteolytic systems emphasises the pleiotropic functions of proteases in the body homeostasis." @default.
• W2088373886 created "2016-06-24" @default.
• W2088373886 creator A5061362170 @default.
• W2088373886 date "2005-07-01" @default.
• W2088373886 modified "2023-09-25" @default.
• W2088373886 title "The genetic and molecular bases of monogenic disorders affecting proteolytic systems" @default.
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