Results 71 to 80 of about 3,734 (156)
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.ABSTRACT Background Emery–Dreifuss muscular dystrophy (EDMD) is a progressive genetic myopathy that mainly affects the muscles used for movement (skeletal muscles) and the heart (cardiac muscles). The disease is frequently associated with mutations in genes encoding nuclear envelope proteins, most notably LMNA, which encodes lamin A—a critical ...
So‐mi Kang +11 more
wiley +1 more source
, 2004 Nuclear lamins form a fibrous nucleoskeletal network of intermediate-sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this ...
Hutchison, CJ +5 more
core +1 more source
Protein structural and mechanistic basis of progeroid laminopathies
, 2020 International audienceProgeroid laminopathies are characterized by the premature appearance of certain signs of physiological aging in a subset of tissues. They are caused by mutations in genes coding for A-type lamins or lamin binding proteins. Here, we
Agathe Marcelot +5 more
core +1 more source
Identification of Genes and Pathways Regulated by Lamin A in Heart
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2020 Background Mutations in the LMNA gene, encoding LMNA (lamin A/C), causes distinct disorders, including dilated cardiomyopathies, collectively referred to as laminopathies. The genes (coding and noncoding) and regulatory pathways controlled by LMNA in the
Jordi Coste Pradas +13 more
doaj +1 more source
Informing Dose for Pediatric Rare Diseases—A Survey of Recent Orphan Drugs Approvals
Clinical and Translational Science, Volume 19, Issue 2, February 2026.ABSTRACT Collectively, pediatric rare diseases affect millions of children worldwide. Yet, treatment options are limited. Dose selection presents unique challenges in pediatric rare disease drug development. Traditional dose‐finding approaches are impractical for these populations, and conventional pediatric dosing methods like exposure matching face ...
Elimika Pfuma Fletcher +6 more
wiley +1 more source
Chromatin dynamics and in vitro biomarkers in laminopathies: an overview
, 2015 Chromatin regulation in eukaryotes occurs through complex and interconnected mechanisms that ensure heterochromatin maintenance and compartmentalization of chromosome domains, genome stability, chromatin conformational changes before and after mitosis ...
Giovanna Lattanzi
core
Nuclear Organization in Stress and Aging
Cells, 2019 The eukaryotic nucleus controls most cellular processes. It is isolated from the cytoplasm by the nuclear envelope, which plays a prominent role in the structural organization of the cell, including nucleocytoplasmic communication, chromatin positioning,
Raquel Romero-Bueno +4 more
doaj +1 more source
The fat‐heart entanglement and the role of ‘osteopontin mechanics’ in cardiometabolic senescence
European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.Abstract Background Residual cardiovascular (CV) risk persists despite therapeutic advances. Obesity is heterogeneous, and visceral adipose tissue (VAT) dysfunction (‘adiposopathy’) complicates risk stratification. Osteopontin (OPN) is a pleiotropic mediator implicated in VAT inflammation, senescence‐associated pathways, atherosclerosis and myocardial ...
Cristina Michelauz +3 more
wiley +1 more source
, 2016 Emery-Dreifuss Muscular Dystrophy and Dilated Cardiomyopathy with conduction system disorders are rare muscular diseases associated with LMNA mutations.
Paola Cavalcante +7 more
core
Cutting edge: the role of mTOR signaling in laminopathies. [PDF]
, 2019 The mechanistic target of rapamycin (mTOR) is a ubiquitous serine/threonine kinase that regulates anabolic and catabolic processes, in response to environmental inputs.
V. Cenni +13 more
core +1 more source