Results 11 to 20 of about 3,734 (156)
Need for NAD+: Focus on Striated Muscle Laminopathies
Cells, 2020 Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork ...
Déborah Cardoso, Antoine Muchir
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From loss to gain: role for SUN1 in laminopathies [PDF]
Cell & Bioscience, 2012 Mutations in LMNA encoding lamins A and C are associated with at least 10 different degenerative disorders affecting diverse tissues, collectively called laminopathies.
Liu Baohua, Jin Dong-Yan, Zhou Zhongjun
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Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations [PDF]
Frontiers in Physiology, 2018 Laminopathies are a clinically heterogeneous group of disorders caused by mutations in LMNA. The main proteins encoded by LMNA are Lamin A and C, which together with Lamin B1 and B2, form the nuclear lamina: a mesh-like structure located underneath the ...
Heather B. Steele-Stallard +10 more
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Lamin A/C Mechanotransduction in Laminopathies [PDF]
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
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The empowerment of translational research: lessons from laminopathies [PDF]
Orphanet Journal of Rare Diseases, 2012 The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009.
Benedetti Sara +40 more
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Laminopathies: what can humans learn from fruit flies
Cellular & Molecular Biology Letters, 2018 Lamin proteins are type V intermediate filament proteins (IFs) located inside the cell nucleus. They are evolutionarily conserved and have similar domain organization and properties to cytoplasmic IFs. Lamins provide a skeletal network for chromatin, the
Marta Pałka +6 more
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Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes [PDF]
International Journal of Molecular SciencesLipodystrophic laminopathies are a group of ultra-rare disorders characterised by the presence of pathogenic variants in the same gene (LMNA) and other related genes, along with an impaired adipose tissue pattern and other features that are specific of ...
Silvia Cobelo Gómez +2 more
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Targeting RANKL Prevents Bone Loss, Improves Muscle Function and Extends Lifespan in Progeroid Mice. [PDF]
Aging CellTargeting of RANKL by genetic and pharmacological approaches ameliorates key features of the progeroid phenotype in Zmpste24−/− mice. RANKL intervention restores bone mass, improves muscle phenotype, and extends survival. These findings support further exploration of RANKL‐targeted therapies for Hutchinson‐Gilford progeria syndrome.
Freitas-Rodríguez S +11 more
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Stem Cell Research, 2020 Mutations in LMNA gene are known to cause a broad range of diseases called laminopathies. We have generated two induced pluripotent stem cell lines FAMRCi006-A and FAMRCi006-B from a patient carrying LMNA p.
Kseniya Perepelina +9 more
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Characterization of cardiac involvement in children with LMNA-related muscular dystrophy
Frontiers in Cell and Developmental Biology, 2023 Introduction: LMNA-related muscular dystrophy is a rare entity that produce “laminopathies” such as Emery–Dreifuss muscular dystrophy (EDMD), limb–girdle muscular dystrophy type 1B (LGMD1B), and LMNA-related congenital muscular dystrophy (L-CMD).
Sergi Cesar +47 more
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