ArticleThe American journal of pathology2001
Lack of cytosolic and transmembrane domains of type XIII collagen results in progressive myopathy.
Article in The American journal of pathology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 69 citations in OpenAlex.
- Advances in Molecular Function and Recombinant Expression of Human Collagen.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Expression of Collagen XIII in Tissues of the Thyroid and Orbit With Relevance to Thyroid-Associated Ophthalmopathy.Investigative ophthalmology & visual science · 2024Article
- Integrin α11β1 is a receptor for collagen XIII.Cell and tissue research · 2021Article
- Congenital myasthenic syndrome caused by novel COL13A1 mutations.Journal of neurology · 2019Article
- Collagen XIII Is Required for Neuromuscular Synapse Regeneration and Functional Recovery after Peripheral Nerve Injury.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2018Article
- The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.Journal of cell science · 2018Review
- Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.American journal of human genetics · 2015Article
- A role for collagen XXIII in cancer cell adhesion, anchorage-independence and metastasis.Oncogene · 2012Article
- Mutation of the 5'-untranslated region stem-loop structure inhibits α1(I) collagen expression in vivo.The Journal of biological chemistry · 2011Article
- Muscle-derived collagen XIII regulates maturation of the skeletal neuromuscular junction.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Inhibition of collagen fibrillogenesis by cells expressing soluble extracellular domains of DDR1 and DDR2.Journal of molecular biology · 2010Article
- A mutant collagen XIII alters intestinal expression of immune response genes and predisposes transgenic mice to develop B-cell lymphomas.Cancer research · 2008Article
- SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain.Human molecular genetics · 2008Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type XIII collagen is a type II transmembrane protein found at many sites of cell adhesion in tissues. Homologous recombination was used to generate a transgenic mouse line (Col13a1(N/N)) that expresses N-terminally altered type XIII collagen molecules lacking the short cytosolic and transmembrane domains but retaining the large collagenous ectodomain. The mutant molecules were correctly transported to focal adhesions in cultured fibroblasts derived from the Col13a1(N/N) mice, but the cells showed decreased adhesion when plated on type IV collagen. These mice were viable and fertile, and in immunofluorescence stainings the mutant protein was located in adhesive tissue structures in the same manner as normal alpha1(XIII) chains. In immunoelectron microscopy of wild-type mice type XIII collagen was detected at the plasma membrane of skeletal muscle cells whereas in the mutant mice the protein was located in the adjacent extracellular matrix. Affected skeletal muscles showed abnormal myofibers with a fuzzy plasma membrane-basement membrane interphase along the muscle fiber and at the myotendinous junctions, disorganized myofilaments, and streaming of z-disks. The findings were progressive and the phenotype was aggravated by exercise. Thus type XIII collagen seems to participate in the linkage between muscle fiber and basement membrane, a function impaired by lack of the cytosolic and transmembrane domains.
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