ArticlePloS one2013
Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 38 citations in OpenAlex.
- Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2025Article
- The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.Aging cell · 2022Article
- Understanding the molecular basis of cardiomyopathy.American journal of physiology. Heart and circulatory physiology · 2022Review
- Compromised Biomechanical Properties, Cell-Cell Adhesion and Nanotubes Communication in Cardiac Fibroblasts Carrying the Lamin A/C D192G Mutation.International journal of molecular sciences · 2021Article
- A hub-and-spoke nuclear lamina architecture in trypanosomes.Journal of cell science · 2021Article
- Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.International journal of molecular sciences · 2020Article
- Using chemiluminescence imaging of cells (CLIC) for relative protein quantification.Scientific reports · 2020Article
- Lamin A/C and Emerin depletion impacts chromatin organization and dynamics in the interphase nucleus.BMC molecular and cell biology · 2019Article
- Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.European journal of human genetics : EJHG · 2019Article
- Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies.Oxidative medicine and cellular longevity · 2019Review
- A molecular model for LINC complex regulation: activation of SUN2 for KASH binding.Molecular biology of the cell · 2018Article
- Emerin modulates spatial organization of chromosome territories in cells on softer matrices.Nucleic acids research · 2018Article
- Molecular Insights into the Mechanisms of SUN1 Oligomerization in the Nuclear Envelope.Biophysical journal · 2018Article
- Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice.Nucleus (Austin, Tex.) · 2018Article
- Nesprins and Lamins in Health and Diseases of Cardiac and Skeletal Muscles.Frontiers in physiology · 2018Review
- Coordinated increase of nuclear tension and lamin-A with matrix stiffness outcompetes lamin-B receptor that favors soft tissue phenotypes.Molecular biology of the cell · 2017Article
- Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.Scientific reports · 2017Article
- Article
- Nesprin-2 Interacts with Condensin Component SMC2.International journal of cell biology · 2017Article
- Live-cell protein labelling with nanometre precision by cell squeezing.Nature communications · 2016Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn eukaryotes the genetic material is enclosed by a continuous membrane system, the nuclear envelope (NE). Along the NE specific proteins assemble to form meshworks and mutations in these proteins have been described in a group of human diseases called laminopathies. Laminopathies include lipodystrophies, muscle and cardiac diseases as well as metabolic or progeroid syndromes. Most laminopathies are caused by mutations in the LMNAgene encoding lamins A/C. Together with Nesprins (Nuclear Envelope Spectrin Repeat Proteins) they are core components of the LINC complex (Linker of Nucleoskeleton and Cytoskeleton). The LINC complex connects the nucleoskeleton and the cytoskeleton and plays a role in the transfer of mechanically induced signals along the NE into the nucleus, and its components have been attributed functions in maintaining nuclear and cellular organization as well as signal transduction.
resultsHere we narrowed down the interaction sites between lamin A and Nesprin-2 to aa 403-425 in lamin A and aa 6146-6347 in Nesprin-2. Laminopathic mutations in and around the involved region of lamin A (R401C, G411D, G413C, V415I, R419C, L421P, R427G, Q432X) modulate the interaction with Nesprin-2 and this may contribute to the disease phenotype. The most notable mutation is the lamin A mutation Q432X that alters LINC complex protein assemblies and causes chromosomal and transcription factor rearrangements.
conclusionMutations in Nesprin-2 and lamin A are characterised by complex genotype phenotype relations. Our data show that each mutation in LMNAanalysed here has a distinct impact on the interaction among both proteins that substantially explains how distinct mutations in widely expressed genes lead to the formation of phenotypically different diseases.
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