Deciphering Nuclear Mechanobiology in Laminopathy [PDF]
Cells, 2019 Extracellular mechanical stimuli are translated into biochemical signals inside the cell via mechanotransduction. The nucleus plays a critical role in mechanoregulation, which encompasses mechanosensing and mechanotransduction.
Jungwon Hah, Dong-Hwee Kim
exaly +6 more sources
Creatine and l-Carnitine Attenuate Muscular Laminopathy in the LMNA Mutation Transgenic Zebrafish [PDF]
Scientific ReportsLamin A/C gene (LMNA) mutations contribute to severe striated muscle laminopathies, affecting cardiac and skeletal muscles, with limited treatment options.
Horng-Dar Wang +2 more
exaly +4 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.
Michael Tatham, Ronald Hay, Adel Ibrahim
exaly +4 more sources
Clustering cell nuclei on microgrooves for disease diagnosis using deep learning [PDF]
Scientific ReportsVarious diseases including laminopathies and certain types of cancer are associated with abnormal nuclear mechanical properties that influence cellular and nuclear deformations in complex environments.
Bettina Roellinger +5 more
doaj +3 more sources
Clinical Case Reports (discontinued), 2021 The report of LMNB2‐related progressive myoclonus epilepsy and ataxia due to missense homozygous c.473G>T variant.
Arash Pooladi +2 more
exaly +2 more sources
Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His [PDF]
Stem Cell Research, 2021 Cardiac laminopathy caused by mutations in the LMNA gene are common and highly penetrant with a poor prognosis. We have generated a novel human induced pluripotent stem cell(iPSC) lines YCMi003-A from a patient with dilated cardiomyopathy associated with
Jaewon Oh +12 more
doaj +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 DiseaseBackground 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 +12 more
doaj +2 more sources
Lamin A/C Mechanotransduction in Laminopathies
Cells, 2020 Mechanotransduction translates forces into biological responses and regulates cell functionalities. It is implicated in several diseases, including laminopathies which are pathologies associated with mutations in lamins and lamin-associated proteins ...
Francesca Donnaloja +3 more
doaj +3 more sources
Severe CMD with Novel Mutation in Lamin A/C Gene [PDF]
Pediatric Neurology Briefs, 2010 Researchers at Queen Fabiola Children’s University Hospital, Brussels, Belgium, report a 7-year-old Belgian boy with a 5 months-onset congenital muscular dystrophy and laminopathy caused by a de novo heterozygous LMNA gene mutation.
J Gordon Millichap
doaj +2 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 +1 more
doaj +2 more sources