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Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 J+Biol+Chem 2015 ; 290 (47): 28428-37 Nephropedia Template TP
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Degradation of Stop Codon Read-through Mutant Proteins via the Ubiquitin-Proteasome System Causes Hereditary Disorders* #MMPMID26442586
J Biol Chem 2015[Nov]; 290 (47): 28428-37 PMID26442586show ga
Background: 20 read-through mutations that produce C-terminally extended proteins are related to human hereditary disorders.Results: The C-terminal extended proteins of mouse cFLIP-L (cellular FLICE-like apoptosisinhibitory protein) and human PNPO (pyridoxamine 5-phosphate oxidase) and HSD3B2 (3-hydroxysteroid dehydrogenase type II) are ubiquitylated and degraded, involving an E3 ligase, TRIM21, for cFLIP-L and PNPO degradation.Conclusion: Read-through mutant cFLIP-L, PNPO, and HSD3B2 are degraded by the ubiquitin-proteasome system.Significance: Degradation of read-through mutant proteins may cause hereditary disorders.