Results 121 to 130 of about 473 (164)
[Laminopathies--interdisciplinary problem].
Kardiologia polska, 2008 Zofia T, Bilińska, Anna, Fidziańska
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The Journal of Pathology, 2004
AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers +2 more
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AbstractNuclear lamins form a fibrous nucleoskeletal network of intermediate‐sized filaments that underlies the inner nuclear membrane. It associates with this membrane through interactions with specific integral nuclear membrane proteins, while within this flattened lamin lattice the nuclear pore complexes are embedded. Next to this peripheral network,
Jos L V, Broers +2 more
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Molecular Pathology of Laminopathies
Annual Review of Pathology: Mechanisms of Disease, 2022The nuclear envelope is composed of the nuclear membranes, nuclear lamina, and nuclear pore complexes. Laminopathies are diseases caused by mutations in genes encoding protein components of the lamina and these other nuclear envelope substructures. Mutations in the single gene encoding lamin A and C, which are expressed in most differentiated somatic ...
Ji-Yeon, Shin, Howard J, Worman
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Laminopathies: A chromatin affair
Advances in Enzyme Regulation, 2006In the last 5 years, an impressive series of genetic diseases (16 distinct diseased phenotypes have been so far identified), affecting metabolic and/or developmental processes, have been demonstrated to be caused by mutation of LMNA gene and collectively referred to as laminopathies.
NM MARALDI +7 more
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2012
The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following
Nadir M Maraldi, Giovanna Lattanzi
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The laminopathies are a group of rare diseases characterized by a vast range of phenotypic alterations, due to mutations in lamin A and C or other nuclear envelope proteins. A-type lamins, as well as B-type lamins, belong to the type V intermediate filaments and, by polymerization, form the nuclear lamina, a component of the nuclear envelope. Following
Nadir M Maraldi, Giovanna Lattanzi
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Laminopathies in Russian families
Clinical Genetics, 2008Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.[781_783delAAG, 781insGTGGAGCAGTATAAGAAA], Arg249Gln (in two families), Arg377His, Arg541His, Ala350Pro ...
G E, Rudenskaya +6 more
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Involvement of Prelamin A in Laminopathies
Critical Reviews™ in Eukaryotic Gene Expression, 2007The precursor protein of the nuclear lamina constituent lamin A is a 74-kDa protein called prelamin A which undergoes subsequent steps of posttranslational modification at its C-terminal CaaX residue. The unexpected finding that accumulation of unprocessable prelamin A is the molecular basis of the most severe laminopathies so far identified, including
Maraldi NM, Lattanzi G
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Seminars in Cell & Developmental Biology, 2014
Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Feriel, Azibani +4 more
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Lamins A and C, encoded by LMNA, are constituent of the nuclear lamina, a meshwork of proteins underneath the nuclear envelope first described as scaffolding proteins of the nucleus. Since the discovery of LMNA mutations in highly heterogeneous human disorders (including cardiac and muscular dystrophies, lipodystrophies and progeria), the number of ...
Feriel, Azibani +4 more
openaire +2 more sources