Results 21 to 30 of about 5,533 (240)
PLoS Genetics, 2023 Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects.
Ellen F Gregory +6 more
doaj +1 more source
Cells, 2020 Striated muscle laminopathies are cardiac and skeletal muscle conditions caused by mutations in the lamin A/C gene (LMNA). LMNA codes for the A-type lamins, which are nuclear intermediate filaments that maintain the nuclear structure and nuclear ...
Hannah A. Nicolas +9 more
doaj +1 more source
Mammalian telomeres and their partnership with lamins [PDF]
, 2016 Chromosome ends are complex structures, which require a panel of factors for their elongation, replication, and protection. We describe here the mechanics of mammalian telomeres, dynamics and maintainance in relation to lamins.
BURLA, ROMINA +2 more
core +1 more source
Cellular and Animal Models of Striated Muscle Laminopathies
Cells, 2019 The lamin A/C (LMNA) gene codes for nuclear intermediate filaments constitutive of the nuclear lamina. LMNA has 12 exons and alternative splicing of exon 10 results in two major isoforms—lamins A and C.
Hannah A. Nicolas +2 more
doaj +1 more source
Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]
, 2018 Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide +13 more
core +2 more sources
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, 2023 Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known.
Antia Fernandez-Pombo +6 more
doaj +1 more source
The role of prelamin A post-translational maturation in stress response and 53BP1 recruitment
Frontiers in Cell and Developmental Biology, 2022 Lamin A is a main constituent of the nuclear lamina and contributes to nuclear shaping, mechano-signaling transduction and gene regulation, thus affecting major cellular processes such as cell cycle progression and entry into senescence, cellular ...
Cristina Capanni +9 more
doaj +1 more source
The laminA/NF-Y protein complex reveals an unknown transcriptional mechanism on cell proliferation [PDF]
, 2016 Lamin A is a component of the nuclear matrix that also controls proliferation by largely unknown mechanisms. NF-Y is a ubiquitous protein involved in cell proliferation composed of three subunits (-YA -YB -YC) all required for the DNA ...
Alonzi, Tonino +16 more
core +2 more sources
Biology, 2022 Cardiolaminopathies are a heterogeneous group of disorders which are due to mutations in the genes encoding for nuclear lamins or their binding proteins. The whole spectrum of cardiac manifestations encompasses atrial arrhythmias, conduction disturbances,
Anna Chiara Valenti +7 more
doaj +1 more source
Lipodystrophic laminopathies: Diagnostic clues [PDF]
Nucleus, 2018 The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery.
Cristina Guillín-Amarelle +3 more
openaire +3 more sources