ESC Heart Failure, Volume 12, Issue 3, Page 2347-2352, June 2025.
Daigo Nishijo +19 more
wiley +1 more source
Alzheimer's disease: An acquired neurodegenerative laminopathy [PDF]
Nucleus, 2016 The nucleus is typically depicted as a sphere encircled by a smooth surface of nuclear envelope. For most cell types, this depiction is accurate. In other cell types and in some pathological conditions, however, the smooth nuclear exterior is interrupted by tubular invaginations of the nuclear envelope, often referred to as a "nucleoplasmic reticulum,"
openaire +2 more sources
Editorial: Is aberrant genome organization a cause or consequence of specific diseases?
Frontiers in Cell and Developmental Biology, 2023 Eric C. Schirmer, Joanna M. Bridger
doaj +1 more source
Nuclear envelope laminopathies: evidence for developmentally inappropriate chromatin-nuclear envelope interactions [PDF]
, 2013 During terminal differentiation of cells, there is typically a transition of the nuclear envelope from the Lamin B protein to Lamin A/C proteins.
Eric Hoffman +3 more
core +2 more sources
Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering [PDF]
, 2018 Generating human skeletal muscle models is instrumental for investigating muscle pathology and therapy. Here, we report the generation of three-dimensional (3D) artificial skeletal muscle tissue from human pluripotent stem cells, including induced ...
Cappellari, O +21 more
core
Lamin A/C and emerin regulate MKL1/SRF activity by modulating actin dynamics [PDF]
, 2014 Laminopathies, caused by mutations in the LMNA gene encoding the nuclear envelope proteins lamins A and C, represent a diverse group of diseases that include Emery-Dreifuss Muscular Dystrophy (EDMD), dilated cardiomyopathy (DCM), limb-girdle muscular ...
Ho, Chin Yee +3 more
core +1 more source
Congenital muscular dystrophies: classification and diagnostic strategy
Нервно-мышечные болезни, 2015 Congenital muscular dystrophies (CMD) are a large group of genetically determined muscular diseases, initially defined by an early onset before the age of walking and dystrophic changes on myopathologic analyses.
François Rivier +5 more
doaj +1 more source
Letter by Barriales-Villa et al Regarding Article, “Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies” [PDF]
, 2019 Roberto Barriales‐Villa +2 more
openalex +1 more source
Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases [PDF]
, 2004 Nadir M. Maraldi +6 more
openalex +1 more source
Novel insights into the disease etiology of laminopathies [PDF]
, 2013 Chin Yee Ho +2 more
openalex +1 more source