Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy
Folia Neuropathologica, 2017 Deficit of lamin A/C or emerin causes genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). As lamins are considered to be mediators of oxidative stress, the antioxidant/oxidant status was examined.
Irena Niebroj-Dobosz +4 more
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
Isolated Right Atrial Enhancement with Atrial Standstill: An Uncommon Presentation of Emery–Dreifuss Muscular Dystrophy [PDF]
Indian Journal of Radiology and ImagingEmery–Dreifuss muscular dystrophy (EDMD) is a rare inherited syndrome that affects muscles, joints, and the heart. The classic clinical triad includes early joint contractures, slowly progressive muscle weakness, and cardiac abnormalities.
Basavaraj Biradar +3 more
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Distrofia muscular de Emery-Dreifuss: relato de caso Emery-Dreifuss muscular dystrophy: case report
Arquivos de Neuro-Psiquiatria, 2006 A distrofia muscular de Emery-Dreifuss é uma forma de distrofia muscular freqüentemente associada a contraturas articulares e defeitos de condução cardíaca, que pode ser causada pela deficiência da proteína emerina na membrana nuclear interna das fibras ...
Ana Lucila Moreira Carsten +3 more
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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
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Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland [PDF]
International Journal of Occupational Medicine and Environmental Health, 2014 Objectives: Emery-Dreifuss muscular dystrophy (EDMD) is a very rare genetic disorder affecting skeletal and heart muscles. The aim of this study was to identify factors which might influence the ability to work in EDMD patients in Poland.
Agnieszka Madej-Pilarczyk
doaj +3 more sources
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy [PDF]
Neurology International, 2018 Laminopathies are genetic disorders due to gene mutation encoding for proteins of the nuclear envelope. Patients are at risk of conduction defect, arrhythmia, sudden death and heart failure.
Abdallah Fayssoil
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Both emerin and lamin C depend on lamin A for localization at the nuclear envelope [PDF]
, 2001 Physical interactions between lamins and emerin were investigated by co-immunoprecipitation of in vitro translated proteins. Emerin interacted with in vitro translated lamins A, B1 and C in co-immunprecipitation reactions.
Whitfield, WGF +8 more
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The role of lamin A and emerin in mediating genome organisation [PDF]
, 2010 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.The nuclear matrix (NM) is proposed to be a permanent network of core filaments underlying thicker fibres, present regardless of transcriptional activity ...
Godwin, Lauren Sarah
core +7 more sources
Nature Communications, 2021 The nuclear envelope tethers chromatin to the nuclear periphery to control genome architecture. Here, the authors show that Net39 preserves the integrity and gene expression of muscle nuclei in mice, and it may contribute to the pathogenesis of Emery ...
Andres Ramirez-Martinez +15 more
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