Results 31 to 40 of about 3,036 (198)
Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, 2023 Type 2 familial partial lipodystrophy (FPLD2) is a laminopathic lipodystrophy due to pathogenic variants in the LMNA gene. Its rarity implies that it is not well-known.
Antia Fernandez-Pombo +6 more
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The role of prelamin A post-translational maturation in stress response and 53BP1 recruitment
Frontiers in Cell and Developmental Biology, 2022 Lamin A is a main constituent of the nuclear lamina and contributes to nuclear shaping, mechano-signaling transduction and gene regulation, thus affecting major cellular processes such as cell cycle progression and entry into senescence, cellular ...
Cristina Capanni +9 more
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Lipodystrophic laminopathies: Diagnostic clues [PDF]
Nucleus, 2018 The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery.
Cristina Guillín-Amarelle +3 more
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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. The nuclear lamina underlying the inner nuclear membrane not only maintains the structural integrity, but also connects the ...
Jungwon Hah, Dong-Hwee Kim
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Mouse models of the laminopathies [PDF]
Experimental Cell Research, 2007 The A and B type lamins are nuclear intermediate filament proteins that comprise the bulk of the nuclear lamina, a thin proteinaceous structure underlying the inner nuclear membrane. The A type lamins are encoded by the lamin A gene (LMNA). Mutations in this gene have been linked to at least nine diseases, including the progeroid diseases Hutchinson ...
Colin L, Stewart +3 more
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Dialing Down SUN1 for Laminopathies [PDF]
Cell, 2012 Laminopathies, caused by mutations in A-type nuclear lamins, encompass a range of diseases, including forms of progeria and muscular dystrophy. In this issue, Chen et al. provide evidence that elevated expression of the nuclear inner membrane protein SUN1 drives pathology in multiple laminopathies.
Suh, Yousin, Kennedy, Brian K.
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Nuclear lamins and laminopathies [PDF]
The Journal of Pathology, 2011 AbstractNuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding ...
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Pushing the limit on laminopathies
Nature Materials, 2020 Mutations in lamins in skeletal muscle cells have been shown to reduce nuclear stability, increase nuclear envelope rupture, and induce DNA damage and cell death. New research shows that limiting mechanical loads can rescue myofibre function and viability.
Joel C, Eissenberg, Susana, Gonzalo
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Aging Cell, 2012 AbstractThe A‐ and B‐type lamins are nuclear intermediate filament proteins in eukaryotic cells with a broad range of functions, including the organization of nuclear architecture and interaction with proteins in many cellular functions. Over 180 disease‐causing mutations, termed ‘laminopathies,’ have been mapped throughout LMNA, the gene for A‐type ...
Haoyue, Zhang +2 more
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Dynamic expression of lamin B1 during adult neurogenesis in the vertebrate brain
Developmental Dynamics, Volume 255, Issue 2, Page 187-208, February 2026.Abstract Background In mammals, specific brain regions such as the dentate gyrus (DG) of the hippocampus and the subventricular zone (SVZ) of the lateral ventricles harbor adult neural stem/progenitor cells (ANSPCs) that give rise to new neurons and contribute to structural and functional brain plasticity.
Diana Zhilina +12 more
wiley +1 more source