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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer Netherlands
2016
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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. |
format | Online Article Text |
id | pubmed-5083666 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Springer Netherlands |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT gawronkatarzyna endoplasmicreticulumstressinchondrodysplasiascausedbymutationsincollagentypesiiandx |