The DOI matches its Crossref record; 114 of the 114 references it cites were found in a registry or an index.
Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations
Abstract
Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. Mutations cause ECM dysfunction by combinations of two mechanisms. First, secretion of the mutated ECM components can be reduced by mutations affecting synthesis or by structural mutations causing cellular retention and/or degradation. Second, secretion of mutant protein can disturb crucial ECM interactions, structure and stability. Moreover, recent experiments suggest that endoplasmic reticulum (ER) stress, caused by mutant misfolded ECM proteins, contributes to the molecular pathology. Targeting ER stress might offer a new therapeutic strategy.
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“These studies have revealed that ECM controls organ development and subsequent function through cell anchorage, integrin-mediated activation and signaling, transduction of mechanical forces, and the sequestering, release, and activation of soluble growth factors.”
From Wound repair and regeneration: Mechanisms, signaling, and translation (2014) · cites this paper as [137]
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“mutations to glycine residues in COL3A1 that disrupt the triple-helix motif constitute a frequent pathogenic mechanism.”
In the citing paper
“Biosynthesis of mature COLL fibrils is a multistep process spanning both intracellular and extracellular PTMs mediated by various enzymes and molecular chaperones that provide specific modifications such as hydroxylation of prolyl and lysyl residues, which are a prerequisite for correct protein folding [7].”
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Metadata
- Authors
- Bateman, J. F., Boot-Handford, R. P., & Lamandé, S. R.
- Affiliations
- Royal Children's Hospital (AU)
- Corresponding author
- Bateman, John F.
- Venue
- Nature Reviews Genetics
- Published
- 2009-03
- Volume
- 10
- Issue
- 3
- Pages
- 173-183
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W2129656993
- Cited by
- 338
- References
- 114
- Citations by year
- 2026: 10 · 2025: 13 · 2024: 14 · 2023: 14 · 2022: 24 · 2021: 27 · 2020: 25 · 2019: 24 · 2018: 30 · 2017: 20 · 2016: 14 · 2015: 17 · 2014: 24 · 2013: 18 · 2012: 15
- FWCI
- 2.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Funders
- National Health and Medical Research Council
- National Medical Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- connective tissue diseases, extracellular matrix, protein misfolding, endoplasmic reticulum stress, protein secretion, cell retention, extracellular matrix degradation, genetic disorders
- MeSH terms
- Animals, Connective Tissue Diseases, Endoplasmic Reticulum, Extracellular Matrix, Humans, Mutation
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