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Type: Journal article
Title: Protein processing: a role in the pathophysiology of genetic disease
Author: Brooks, D.
Citation: FEBS Letters, 1997; 409(2):115-120
Issue Date: 1997
ISSN: 0014-5793
Abstract: Genetic diseases associated with an enzyme deficiency frequently have reduced intracellular levels of the mutant protein, despite apparently normal levels of message and protein synthesis. It has been suggested that the endoplasmic reticulum (ER) can recognise mutant protein as incorrectly folded and invoke 'quality control' processes which cause the retention and degradation of this protein. This process may occur, even for mutations which do not abrogate protein activity, contributing directly to pathophysiology. Genetic diseases associated with defects in ER and Golgi processing proteins have also been reported and generally result in impaired processing of multiple protein products. In this review the role of the ER and Golgi in the pathogenesis of genetic diseases relating to the vacuolar network are discussed.
Keywords: Humans; Metabolism, Inborn Errors; Enzymes; Protein Processing, Post-Translational
RMID: 0030005650
DOI: 10.1016/S0014-5793(97)00423-7
Appears in Collections:Paediatrics publications

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