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    Understanding the molecular mechanisms that underlie different human pathologies is necessary to develop novel therapeutic strategies. An emerging mechanism of pathogenesis in many genetic disorders is the dysregulation of protein degradation, which leads to the accumulation of proteins that are responsible for the disease phenotype. Among the different cellular pathways that regulate active proteolysis, the Cullin RING E3 ligases represent an important group of sophisticated enzymatic complexes that mediate substrate ubiquitination through the interaction with specific adaptors. However, pathogenic variants in these adaptors affect the physiological ubiquitination of their substrates. This review discusses our current understanding of this emerging field. Copyright © 2022 Elsevier B.V. All rights reserved.


    Pau Castel. Defective protein degradation in genetic disorders. Biochimica et biophysica acta. Molecular basis of disease. 2022 May 01;1868(5):166366

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    PMID: 35158019

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