ArticleThe Journal of clinical investigation1996
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.
Article in The Journal of clinical investigation, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
53 citing papers in PubMed, 229 citations in OpenAlex.
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies.Human mutation · 2022Article
- Plectin promotes tumor formation by B16 mouse melanoma cells via regulation of Rous sarcoma oncogene activity.BMC cancer · 2022Article
- Muscle-Related Plectinopathies.Cells · 2021Review
- Review
- Review
- Article
- Diverse dystonin gene mutations cause distinct patterns ofDisease models & mechanisms · 2020Article
- Analysis of DNA methylation associates the cystine-glutamate antiporter SLC7A11 with risk of Parkinson's disease.Nature communications · 2020Article
- [Research advances in limb-girdle muscular dystrophy type 2Q].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Review
- Atypical Familial Amyotrophic Lateral Sclerosis with Slowly Progressing Lower Extremities-predominant Late-onset Muscular Weakness and Atrophy.Internal medicine (Tokyo, Japan) · 2019Article
- Epidermolysis bullosa simplex with muscular dystrophy associated withNeurology. Genetics · 2016Article
- Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Journal of dermatological case reports · 2016Review
- Plectin as a prognostic marker in non-metastatic oral squamous cell carcinoma.BMC oral health · 2015Article
- The rod domain is not essential for the function of plectin in maintaining tissue integrity.Molecular biology of the cell · 2015Article
- Molecular architecture and function of the hemidesmosome.Cell and tissue research · 2015Review
- Molecular architecture and function of the hemidesmosome.Cell and tissue research · 2015Review
- Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.The Journal of investigative dermatology · 2014Review
- Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Histochemistry and cell biology · 2013Review
- Intermediate filament-associated cytolinker plectin 1c destabilizes microtubules in keratinocytes.Molecular biology of the cell · 2013Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blistering of the skin associated with muscular involvement. We report that the skin of three MD-EBS patients is not reactive with antibodies 6C6, 10F6, or 5B3 raised against the intermediate filament-associated protein plectin. Immunofluorescence and Western analysis of explanted MD-EBS keratinocytes confirmed a deficient expression of plectin, which, in involved skin, correlated with an impaired interaction of the keratin cytoskeleton with the hemidesmosomes. Consistent with lack of reactivity of MD-EBS skin to plectin antibodies, plectin was not detected in skeletal muscles of these patients. Impaired expression of plectin in muscle correlated with an altered labeling pattern of the muscle intermediate filament protein desmin. A deficient immunoreactivity was also observed with the monoclonal antibody HD121 raised against the hemidesmosomal protein HD1. Furthermore, immunofluorescence analysis showed that HD1 is expressed in Z-lines in normal skeletal muscle; whereas this expression is deficient in patient muscle. Colocalization of HD1 and plectin in normal skin and muscle, together with their impaired expression in MD-EBS tissues, strongly suggests that plectin and HD1 are closely related proteins. Our results therefore provide strong evidence that, in MD-EBS patients, the defective expression of plectin results in an aberrant anchorage of cytoskeletal structures in keratinocytes and muscular fibers leading to cell fragility.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.