Results 81 to 90 of about 2,390 (199)
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 +7 more
doaj +1 more source
Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling [PDF]
, 2017 Lamins are intermediate filament proteins that assemble into a meshwork underneath the inner nuclear membrane, the nuclear lamina. Mutations in the LMNA gene, encoding lamins A and C, cause a variety of diseases collectively called laminopathies.
Dialynas, George +8 more
core
Aging Cell, Volume 24, Issue 10, October 2025.cTAGE5 regulates LBR trafficking between the ER and the nucleus membrane to maintain the integrity of both the ER and the nuclear envelope. cTAGE5 KO results in LBR retention in the ER, reduced stability, and subsequent disruption of nuclear envelope integrity. ABSTRACT cTAGE5/MEA6 plays a pivotal role in COPII complex assembly, ER‐to‐Golgi trafficking,
Yaqing Wang +9 more
wiley +1 more source
Emerging perspectives on laminopathies
Cell Health and Cytoskeleton, 2016 Laminopathies are a group of inherited disorders caused by mutations in the lamin A/C gene, and can affect diverse organs or tissues, or can be systemic, causing premature aging. In the present review, we report on the composition and structure of the nuclear lamina and the role of lamins in nuclear mechanics and their involvement in human diseases ...
Lattanzi, Giovanna +6 more
openaire +5 more sources
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 +1 more source
Mouse models of nesprin-related diseases [PDF]
, 2018 Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope,
Akinrinade +93 more
core +1 more source
Advanced Functional Materials, Volume 35, Issue 38, September 18, 2025.Oct4‐nanoscript, a biomimetic nanoparticle‐based artificial transcription factor, precisely regulates cellular rejuvenation by activating Oct4 target genes, restoring epigenetic marks, and reducing DNA damage. In a progeria model, it effectively rescued aging‐associated pathologies and extended lifespan.
Hongwon Kim +8 more
wiley +1 more source
Cardiac involvement in laminopathies [PDF]
Orphanet Journal of Rare Diseases, 2015 Lamin A/C gene mutations can be associated with myocardial diseases, usually characterized by dilated cardiomyopathy and/or arrhythmic disorders. Phenotypic penetrance is age-related but expression is extremely heterogeneous, so that muscular and arrhythmic disease can be present in combination in the same patient, or one phenotypic manifestation can ...
Boriani, Giuseppe +3 more
openaire +1 more source
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
doaj +1 more source
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 +1 more source