Cited by 339Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

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Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

Bateman, John F., Boot-Handford, Raymond P., Lamandé, Shireen R.·2009·Nature Reviews Genetics

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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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Authors: Bateman, J. F., Boot-Handford, R. P., & Lamandé, S. R.
Affiliations: Royal Children's Hospital (AU)
Corresponding author: Bateman, John F.
ORCID: Bateman, John F.
Lamandé, Shireen R.
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2009-03
Volume: 10
Issue: 3
Pages: 173-183
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg2520
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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Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

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