Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.

Nature materials - 1 Apr 2020

Earle Ashley J, Kirby Tyler J, Fedorchak Gregory R, Isermann Philipp, Patel Jineet, Iruvanti Sushruta, Moore Steven A, Bonne Gisèle, Wallrath Lori L, Lammerding Jan

Abstract excerpt

Mutations in the LMNA gene, which encodes the nuclear envelope (NE) proteins lamins A/C, cause Emery-Dreifuss muscular dystrophy, congenital muscular dystrophy and other diseases collectively known as laminopathies. The mechanisms responsible for these diseases remain incompletely understood. Using three mouse models of muscle laminopathies and muscle biopsies from individuals with LMNA-related muscular...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Damage
Share to Lamin Type A

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Knockout

Share to Muscular Dystrophy, Animal

Share to Mutation

Share to Myofibrils

Share to Nuclear Envelope

Source

Open in PubMed Open full text

Identifiers

PMID: 31844279
DOI: 10.1038/s41563-019-0563-5
PMCID: PMC7102937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cells.PMID 31844279Read ↗

Mutant lamins cause nuclear envelope rupture and DNA damage in skeletal muscle cellsSemantic proximity Read ↗

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.Semantic proximity Read ↗

Emery-Dreifuss muscular dystrophy.Semantic proximity Read ↗

Lamin-related congenital muscular dystrophy alters mechanical signaling and skeletal muscle growthSemantic proximity Read ↗

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.Semantic proximity Read ↗

Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in Lamin A/C-deficient miceSemantic proximity Read ↗

Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.Semantic proximity Read ↗

Broken nuclei--lamins, nuclear mechanics, and disease.Semantic proximity Read ↗

Molecular Pathology of Laminopathies.Semantic proximity Read ↗

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular FeaturesSemantic proximity Read ↗

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease.Semantic proximity Read ↗

Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.