Results 81 to 90 of about 473 (164)
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
New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy
Терапевтический архивWe present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA gene, previously considered
Svetlana Y. Kashtanova +16 more
doaj +1 more source
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 MetabolismLaminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system.
Aslihan Pekmezci +2 more
doaj +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
Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review
CardiogeneticsCardiac laminopathies encompass a wide range of diseases caused by defects in nuclear envelope proteins, including cardiomyopathy, atrial and ventricular arrhythmias and conduction system abnormalities.
Francesco Ravera +17 more
doaj +1 more source
AN ORPHAN PHENOTYPE OF CARDIOGENITAL LAMINOPATHY — MALOUF SYNDROME
Российский кардиологический журнал, 2016 Recent decades significantly increased the spectrum of monogenic diseases associated with mutations in the gene of lamin A/C (LMNA), that codes the proteins group performing important functions in the nucleus.
T. G. Vaykhanskaya +5 more
doaj +1 more source
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 +1 more source
Aging and Altered Gravity: A Cellular Perspective
The FASEB Journal, Volume 39, Issue 13, 15 July 2025.We propose that, unlike biological aging, where Primary hallmarks initiate damage, spaceflight may trigger a feedback loop between Antagonistic and Integrative hallmarks, driving accelerated aging. Returning to 1 g restores proper signaling and breaks the cycle.
Sharon van Rijthoven +1 more
wiley +1 more source
Hutchinson-Gilford Progeria Syndrome [PDF]
, 2022 The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells.
Gutiérrez Castañeda, Luz Dary +12 more
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