Results 1 to 10 of about 473 (164)
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 +2 more
exaly +6 more sources
Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish
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 +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.
Saeed Farajzadeh Valilou +2 more
exaly +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 +6 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
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
Primary laminopathy fibroblasts display altered genome organization and apoptosis
Aging Cell, 2007 A number of diseases associated with specific tissue degeneration and premature aging have mutations in the nuclear envelope proteins A-type lamins or emerin. Those diseases with A-type lamin mutation are inclusively termed laminopathies.
Karen J Meaburn +2 more
exaly +2 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 ...
Zhe Wang, Yingzi He, Xihua Lin
exaly +2 more sources
Severe CMD with Novel Mutation in Lamin A/C Gene
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 +3 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