Results 51 to 60 of about 23,382 (212)
LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
Архивъ внутренней медициныEmery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C.
E. V. Resnik +5 more
doaj +1 more source
Vascular Smooth Muscle-Specific Progerin Expression Accelerates Atherosclerosis and Death in a Mouse Model of Hutchinson-Gilford Progeria Syndrome [PDF]
, 2018 Background: Progerin, an aberrant protein that accumulates with age, causes the rare genetic disease Hutchinson-Gilford progeria syndrome (HGPS). Patients who have HGPS exhibit ubiquitous progerin expression, accelerated aging and atherosclerosis, and ...
Andrés Manzano, María J. +7 more
core +4 more sources
Stem Cell Research, 2022 LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement, reduced systolic function, and arrhythmia.
Chelsea Lee +5 more
doaj +1 more source
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
core +1 more source
Irisin levels in LMNA-associated partial lipodystrophies [PDF]
Diabetes & Metabolism, 2019 The adipo-myokine irisin regulates energy expenditure and fat metabolism. LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. The aim of this study was to investigate whether irisin could be a biomarker of FPLD2.This case control study included 19 FPLD2 subjects, 13 obese non-diabetic
Bensmaïne, F. +11 more
openaire +3 more sources
The ubiquitin E3/E4 ligase, UBE4A, fine-tunes protein ubiquitylation and accumulation at sites of DNA damage facilitating double-strand break repair [PDF]
, 2018 Double-strand breaks (DSBs) are critical DNA lesions that robustly activate the elaborate DNA damage response (DDR) network. We identified a critical player in DDR fine-tuning - the E3/E4 ubiquitin ligase, UBE4A.
Baranes Bachar, Keren +4 more
core +1 more source
Frontiers in Genetics, 2023 Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar +68 more
doaj +1 more source
Advanced Science, EarlyView.This work develops dynamically softening polyacrylamide hydrogels for time‐resolved imaging during continuous mechanical transitions. The study revealed that mechanotransduction is biphasic; YAP/TAZ inactivation is driven by early loss of the nucleocytoskeletal continuum connecting subnuclear adhesions, F‐actin, and the nuclear envelope, coupled with ...
Alessandro Gandin +12 more
wiley +1 more source
Lamin A Δexon9 mutation leads to telomere and chromatin defects but not genomic instability [PDF]
, 2013 Over 300 mutations in the LMNA gene, encoding A-type lamins, are associated with 15 human degenerative disorders and premature aging syndromes. Although genomic instability seems to contribute to the pathophysiology of some laminopathies, there is ...
Das, Arindam +8 more
core +2 more sources
First Generation Proteolysis Targeting Chimeras (PROTACs) for the Treatment of Progeria
Advanced Science, EarlyView.We report the first PROTACs designed to degrade progerin, introducing a novel therapeutic approach for progeria. The best compound, UCM‐18142, significantly reduces progerin levels and improves key disease phenotypes in patient‐derived cells and in the LmnaG609G/G609G mouse model, paving the way for new treatment strategies targeting the root cause of ...
Jon Macicior‐Michelena +5 more
wiley +1 more source