Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting.

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Metabolism of ganglioside GM2 in GM2 activator-deficient fibroblasts

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Simplified view of the cellular RNA and protein quality surveillance or control systems. Stop-codon introductions as well as splice-site variations, resulting in out-of-frame exon skipping and out-of-frame deletions and insertions, introduce premature termination codons (PTCs). They are--as a rule--recognized by the RNA surveillance system and directed to the non-sense-mediated decay system and eliminated. No (or very little) truncated protein is produced. The maturation of polypeptides is supervised by the protein quality control systems, which may eliminate misfolded proteins such as those containing missense sequence variations, either by degradation or by aggregation. Source: Protein Folding and Misfolding: The Role of Cellular Protein Quality Control Systems in Inherited Disorders, The Online Metabolic and Molecular Bases of Inherited Disease Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: https://ommbid.mhmedical.com/DownloadImage.aspx?image=/data/books/971/ch13_1fg1.png&sec=62640476&BookID=971&ChapterSecID=62640472&imagename= Accessed: October 06, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved