Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset [PDF]
Orphanet Journal of Rare Diseases, 2019 Objective To investigate differences in cardiac manifestations of patients affected by laminopathy, according to the presence or absence of neuromuscular involvement at presentation.
Raffaello Ditaranto +15 more
doaj +7 more sources
Adipocyte, 2019 We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA ...
Yingzi He, Zhe Wang, Xihua Lin
exaly +2 more sources
Homozygous LMNA (p.Arg216His) variant in an Ecuadorian patient with atrial flutter and high-grade atrioventricular block: a case report [PDF]
Frontiers in Cardiovascular MedicineCardiac laminopathies caused by LMNA variants may present with conduction disease, atrial arrhythmias, and ventricular dysfunction, sometimes before overt ventricular dilation. We report a 42-year-old Ecuadorian man with recurrent syncope and progressive
Santiago Cadena-Ullauri +10 more
doaj +2 more sources
Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature [PDF]
Archives of Endocrinology and MetabolismLaminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system.
Aslihan Pekmezci +2 more
doaj +2 more sources
Cell Death DiscoveryLamins A and C, encoded by the LMNA gene, are nuclear intermediate filaments that provide structural support to the nucleus and contribute to chromatin organization and transcriptional regulation.
Tyler J. Kirby +3 more
doaj +2 more sources
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction [PDF]
Cells, 2020 Laminopathies are a wide and heterogeneous group of rare human diseases caused by mutations of the LMNA gene or related nuclear envelope genes. The variety of clinical phenotypes and the wide spectrum of histopathological changes among patients carrying ...
Cristina Cappelletti +20 more
doaj +2 more sources
Mitotic defects lead to pervasive aneuploidy and accompany loss of RB1 activity in mouse LmnaDhe dermal fibroblasts. [PDF]
PLoS ONE, 2011 Lamin A (LMNA) is a component of the nuclear lamina and is mutated in several human diseases, including Emery-Dreifuss muscular dystrophy (EDMD; OMIM ID# 181350) and the premature aging syndrome Hutchinson-Gilford progeria syndrome (HGPS; OMIM ID# 176670)
C Herbert Pratt +3 more
doaj +2 more sources
Metabolic Profiling Reveals Organ-Specific Molecular Pathologies and Aging-Associated Biomarkers in Progeroid Laminopathy. [PDF]
Smart MedThis study integrates transcriptomic, lipidomic, and metabolomic profiling of the heart, lung, skin, and serum from Hutchinson–Gilford progeria syndrome (HGPS) mouse models and human progeroid laminopathy (PL) cohorts. Through multi‐organ analyses, we reveal organ‐specific aging signatures, and importantly, cross‐species serum metabolomics identify ...
Hu L +11 more
europepmc +2 more sources
Post-Translational Modification of Lamins: Mechanisms and Functions
Frontiers in Cell and Developmental Biology, 2022 Lamins are the ancient type V intermediate filament proteins contributing to diverse biological functions, such as the maintenance of nuclear morphology, stabilization of chromatin architecture, regulation of cell cycle progression, regulation of spatial-
Mingyue Zheng +2 more
doaj +1 more source
SUMO protease SENP6 protects the nucleus from SUMO-induced laminopathy
, 2023 Source Western Blot data for "SUMO protease SENP6 protects the nucleus from SUMO-induced laminopathy" Liczmanska et al 2023 Cell ...
Mojsa, Barbara +5 more
core +2 more sources