Results 11 to 20 of about 864,168 (128)
Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations [PDF]
Frontiers in Physiology, 2018 Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Heather B. Steele-Stallard +10 more
doaj +5 more sources
, 2020 The Lamin A/C (LMNA) gene codes for the A-type lamins which are nuclear intermediate filaments that provide structural support to the nucleus and help regulate various nuclear processes such as gene expression. Mutations in LMNA cause a group of diseases
Nicolas, Hannah Almira
core +3 more sources
Gene therapy for striated muscle laminopathy (in vivo study)
, 2023 International audienceLMNA encodes for the nuclear envelope proteins: lamin A/C. LMNA mutation induces numerous disorders called laminopathies, mainly affecting striated muscles. All striated muscle laminopathies are characterized by the development of a
Brull, Astrid +6 more
core +2 more sources
Preclinical Advances of Therapies for Laminopathies. [PDF]
J Clin Med, 2021 International audienceLaminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes.
Benarroch L +5 more
europepmc +2 more sources
Aging Cell, Volume 21, Issue 11, November 2022., 2022 Model of mutant LMNA‐mediated induction of nuclear proteotoxicity and DNA damage and its impact on the onset of laminopathy‐associated progeria. LMNAE262K is increasingly aggregated in the nucleus due to its intrinsic instability coupled with structural unfolding.
Debasish Kumar Ghosh +8 more
wiley +1 more source
European Journal of Heart Failure, Volume 24, Issue 3, Page 406-420, March 2022., 2022 Genetic cardiomyopathies are disorders of the cardiac muscle, most often explained by pathogenic mutations in genes encoding sarcomere, cytoskeleton, or ion channel proteins. Clinical phenotypes such as heart failure and arrhythmia are classically treated with generic drugs, but aetiology‐specific and targeted treatments are lacking.
Rudolf A. de Boer +18 more
wiley +1 more source
Pro‐inflammatory cytokines as emerging molecular determinants in cardiolaminopathies
Journal of Cellular and Molecular Medicine, Volume 25, Issue 23, Page 10902-10915, December 2021., 2021 Abstract Mutations in Lamin A/C gene (lmna) cause a wide spectrum of cardiolaminopathies strictly associated with significant deterioration of the electrical and contractile function of the heart. Despite the continuous flow of biomedical evidence, linking cardiac inflammation to heart remodelling in patients harbouring lmna mutations is puzzling ...
Andrea Gerbino +11 more
wiley +1 more source
From structural resilience to cell specification — Intermediate filaments as regulators of cell fate
The FASEB Journal, Volume 35, Issue 1, January 2021., 2021 Abstract During the last decades intermediate filaments (IFs) have emerged as important regulators of cellular signaling events, ascribing IFs with functions beyond the structural support they provide. The organ and developmental stage‐specific expression of IFs regulate cell differentiation within developing or remodeling tissues.
Marika Sjöqvist +3 more
wiley +1 more source
Interleukin‐6 neutralization ameliorates symptoms in prematurely aged mice
Aging Cell, Volume 20, Issue 1, January 2021., 2021 Signs of premature ageing are improved by tocilizumab treatment. A study in a murine model of Hutchinson‐Gilford Progeria shows that neutralization of interleukin 6 preserves motor activity and slows‐down tissue deterioration. Abstract Hutchinson–Gilford progeria syndrome (HGPS) causes premature aging in children, with adipose tissue, skin and bone ...
Stefano Squarzoni +17 more
wiley +1 more source
npj Genomic Medicine, 2021 Hundreds of LMNA variants have been associated with several distinct disease phenotypes. However, genotype–phenotype relationships remain largely undefined and the impact for most variants remains unknown.
Corey L. Anderson +6 more
doaj +1 more source