ArticleEuropean journal of cell biology2012
LINC complex alterations in DMD and EDMD/CMT fibroblasts.
Article in European journal of cell biology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 60 citations in OpenAlex.
- Nuclear Mechanotransduction at the Crossroads: How Membrane Receptors Remodel the Perinuclear Cytoskeleton to Drive Cancer and Disease.International journal of biological sciences · 2026Review
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- Depletion of SUN1/2 induces heterochromatin accrual in mesenchymal stem cells during adipogenesis.Communications biology · 2025Article
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- LINC complex alterations are a key feature of sporadic and familial ALS/FTD.Acta neuropathologica communications · 2024Article
- Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts.Cells · 2023Article
- Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts.International journal of molecular sciences · 2022Article
- Image-Based Elastography of Heterochromatin and Euchromatin Domains in the Deforming Cell Nucleus.Small (Weinheim an der Bergstrasse, Germany) · 2021Article
- A molecular mechanism for LINC complex branching by structurally diverse SUN-KASH 6:6 assemblies.eLife · 2021Article
- Direct signaling of TL1A-DR3 on fibroblasts induces intestinal fibrosis in vivo.Scientific reports · 2020Article
- Nesprin-1 impact on tumorigenic cell phenotypes.Molecular biology reports · 2020Article
- Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy.Human molecular genetics · 2019Article
- Deformation Microscopy for Dynamic Intracellular and Intranuclear Mapping of Mechanics with High Spatiotemporal Resolution.Cell reports · 2019Article
- Emerin modulates spatial organization of chromosome territories in cells on softer matrices.Nucleic acids research · 2018Article
- Biotinylation by antibody recognition-a method for proximity labeling.Nature methods · 2018Article
- Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.Clinical diabetes and endocrinology · 2018Article
- Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles.Frontiers in physiology · 2018Review
- Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Orphanet journal of rare diseases · 2017Review
- Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.Scientific reports · 2017Article
- CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly.Molecular genetics and genomics : MGG · 2017Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is a late onset-disease characterized by skeletal muscle wasting and heart defects with associated risk of sudden death. The autosomal dominant form of the disease is caused by mutations in the LMNA gene encoding LaminA and C, the X-linked form results from mutations in the gene encoding the inner nuclear membrane protein Emerin (STA). Both Emerin and LaminA/C interact with the nuclear envelope proteins Nesprin-1 and -2 and mutations in genes encoding C-terminal isoforms of Nesprin-1 and -2 have also been implicated in EDMD. Here we analyse primary fibroblasts from patients affected by either Duchenne muscular dystrophy (DMD) or Emery-Dreifuss muscular dystrophy/Charcot-Marie-Tooth syndrome (EDMD/CMT) that in addition to the disease causing mutations harbour mutations in the Nesprin-1 gene and in the SUN1 and SUN2 gene, respectively. SUN proteins together with the Nesprins form the core of the LINC complex which connects the nucleus with the cytoskeleton. The mutations are accompanied by changes in cell adhesion, cell migration, senescence, and stress response, as well as in nuclear shape and nuclear envelope composition which are changes characteristic for laminopathies. Our results point to a potential influence of mutations in components of the LINC complex on the clinical outcome and the molecular pathology in the patients.
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Registered trials
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.