Results 11 to 20 of about 1,703 (200)

Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish [PDF]

Scientific Reports
Lamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Shao-Wei Pan, Horng-Dar Wang, He-Yun Hsiao, Po-Jui Hsu, Yung-Che Tseng, Wen-Chen Liang, Yuh-Jyh Jong, Chiou-Hwa Yuh   +7 more
doaj   +3 more sources

Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy

Folia Neuropathologica, 2016
Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects.
Agnieszka Madej-Pilarczyk, Andrzej Kochański   +1 more
doaj   +2 more sources

Metabolic Profiling Reveals Organ‐Specific Molecular Pathologies and Aging‐Associated Biomarkers in Progeroid Laminopathy [PDF]

Smart Medicine, Volume 5, Issue 3, June 2026.
This 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 ...
Lidan Hu, Xiaoyang Zhao, Yingxian Zhang, Jingjing Wang, Guozhen Wang, Xiaoli Liu, Zhan Feng, Jiazhen Yin, Zhaoyang Peng, Langping Gao, Jianhua Mao, Ning Shen   +11 more
wiley   +2 more sources

Ventricular Tachycardia Ablation in Structural Heart Disease With LVEF > 35%: Clinical Outcomes and Recurrence Patterns [PDF]

Journal of Cardiovascular Electrophysiology, Volume 37, Issue 9, Page 2031-2038, September 2026.
ABSTRACT Background In patients with structural heart disease (SHD) and moderately impaired left ventricular ejection fraction (LVEF > 35%), data on outcomes after ventricular tachycardia (VT) ablation remain limited. This analysis focuses on VT recurrence after ablation in patients presenting with sustained VT and LVEF > 35% within a secondary ...
Said‐Elias Waezsada, Moneeb Khalaph, Martin Braun, Thomas Fink, Vanessa Sciacca, Nadica Trajkovska, Philipp Lucas, Ersan Akkaya, Maxim Didenko, Mustapha El Hamriti, Guram Imnadze, Denise Guckel, Christian Sohns, Philipp Sommer, Angeliki Darma   +14 more
wiley   +2 more sources

Variant‐Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA‐Related Cardiomyopathy [PDF]

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Disease‐causative variants in LMNA‐encoded lamin A/C cause a genetic cardiomyopathy characterized by atrioventricular block, atrial fibrillation, ventricular arrhythmias, and systolic dysfunction.
Matteo Castrichini, Ramin Garmany, Konstantinos C. Siontis, Jeremy D. Collins, John P. Bois, Naveen L. Pereira, David J. Tester, Martina Gluscevic, Trung Huynh, Raquel Neves, Andrew N. Rosenbaum, Michael J. Ackerman, John R. Giudicessi   +12 more
doaj   +2 more sources

Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with <i>LMNA</i> mutation. [PDF]

Eur Heart J Case Rep
International audienceAbstract Background We present a case series detailing a family with familial cardiac laminopathy, including the female index patient, her father, her brother, and her daughter, all diagnosed with atrial arrhythmias, i.e.
Müssigbrodt A, Vergier R, Herrera Bethencourt M, Monfort A, Inamo J, Fressart V, Richard P, Bouvagnet P.   +7 more
europepmc   +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 Metabolism
Laminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system.
Aslihan Pekmezci, Aydeniz Aydin Gumus, Ozge Polat Korkmaz   +2 more
doaj   +2 more sources

SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations [PDF]

Cell Reports, 2023
Summary: The small ubiquitin-like modifier (SUMO) protease SENP6 disassembles SUMO chains from cellular substrate proteins. We use a proteomic method to identify putative SENP6 substrates based on increased apparent molecular weight after SENP6 depletion.
Magda Liczmanska, Michael H. Tatham, Barbara Mojsa, Ania Eugui-Anta, Alejandro Rojas-Fernandez, Adel F.M. Ibrahim, Ronald T. Hay   +6 more
doaj   +2 more sources

Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health. [PDF]

Curr Heart Fail Rep
Purpose of the ReviewLaminopathies are a diverse group of genetic disorders caused by variants in nuclear lamina proteins, with heart failure being a major cause of morbidity and mortality in patients.
Torfs T, Veltrop RJA, Lezzoche G, Heymans SRB, Verdonschot JAJ, Nabben M.   +5 more
europepmc   +3 more sources

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics [PDF]

Human Mutation, Volume 2026, Issue 1, 2026.
Background Mutations in the LMNA gene underlie a broad spectrum of laminopathies, including muscular dystrophies, cardiomyopathies, and premature aging syndromes; however, the molecular mechanisms by which missense variants disrupt Lamin A structural integrity remain incompletely characterized.
Emre Aktaş, Ceren Nizamoğlu, Salvador Ventura, Feng Gu   +3 more
wiley   +2 more sources