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Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X

The endoplasmic reticulum is primarily recognized as the site of synthesis and folding of secreted, membrane-bound, and some organelle-targeted proteins. An imbalance between the load of unfolded proteins and the processing capacity in endoplasmic reticulum leads to the accumulation of unfolded or m...

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Autor principal: Gawron, Katarzyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083666/
https://www.ncbi.nlm.nih.gov/pubmed/27523816
http://dx.doi.org/10.1007/s12192-016-0719-z
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author Gawron, Katarzyna
author_facet Gawron, Katarzyna
author_sort Gawron, Katarzyna
collection PubMed
description The endoplasmic reticulum is primarily recognized as the site of synthesis and folding of secreted, membrane-bound, and some organelle-targeted proteins. An imbalance between the load of unfolded proteins and the processing capacity in endoplasmic reticulum leads to the accumulation of unfolded or misfolded proteins and endoplasmic reticulum stress, which is a hallmark of a number of storage diseases, including neurodegenerative diseases, a number of metabolic diseases, and cancer. Moreover, its contribution as a novel mechanistic paradigm in genetic skeletal diseases associated with abnormalities of the growth plates and dwarfism is considered. In this review, I discuss the mechanistic significance of endoplasmic reticulum stress, abnormal folding, and intracellular retention of mutant collagen types II and X in certain variants of skeletal chondrodysplasia.
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spelling pubmed-50836662016-11-10 Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X Gawron, Katarzyna Cell Stress Chaperones Mini Review The endoplasmic reticulum is primarily recognized as the site of synthesis and folding of secreted, membrane-bound, and some organelle-targeted proteins. An imbalance between the load of unfolded proteins and the processing capacity in endoplasmic reticulum leads to the accumulation of unfolded or misfolded proteins and endoplasmic reticulum stress, which is a hallmark of a number of storage diseases, including neurodegenerative diseases, a number of metabolic diseases, and cancer. Moreover, its contribution as a novel mechanistic paradigm in genetic skeletal diseases associated with abnormalities of the growth plates and dwarfism is considered. In this review, I discuss the mechanistic significance of endoplasmic reticulum stress, abnormal folding, and intracellular retention of mutant collagen types II and X in certain variants of skeletal chondrodysplasia. Springer Netherlands 2016-08-15 2016-11 /pmc/articles/PMC5083666/ /pubmed/27523816 http://dx.doi.org/10.1007/s12192-016-0719-z Text en © The Author(s) 2016 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Mini Review
Gawron, Katarzyna
Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title_full Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title_fullStr Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title_full_unstemmed Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title_short Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X
title_sort endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types ii and x
topic Mini Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083666/
https://www.ncbi.nlm.nih.gov/pubmed/27523816
http://dx.doi.org/10.1007/s12192-016-0719-z
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