Results 21 to 30 of about 1,238 (171)
Preclinical Advances of Therapies for Laminopathies [PDF]
Journal of Clinical Medicine, 2021 Laminopathies are a group of rare disorders due to mutation in LMNA gene. Depending on the mutation, they may affect striated muscles, adipose tissues, nerves or are multisystemic with various accelerated ageing syndromes. Although the diverse pathomechanisms responsible for laminopathies are not fully understood, several therapeutic approaches have ...
Benarroch, Louise +5 more
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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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Dilated cardiomyopathy: reconceptualization of the problem
Российский кардиологический журнал, 2019 Dilated cardiomyopathy (DCM) is a complex, etiologically heterogeneous myocardial disease, which is one of the main causes of heart failure and heart transplantation.
T. G. Vaykhanskaya +4 more
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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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Cells, 2019 Emerin is an essential LEM (LAP2, Emerin, MAN1) domain protein in metazoans and an integral membrane protein associated with inner and outer nuclear membranes.
Magda Dubińska-Magiera +5 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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Кардиоваскулярная терапия и профилактика, 2017 The primary diagnosis of “dilation cardiomyopathy” is syndromal, and demands clarification of nosological origins. In the article, the specifics of such diagnostics is discussed.
O. V. Blagova +7 more
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Consequences of Lmna Exon 4 Mutations in Myoblast Function
Cells, 2020 Laminopathies are causally associated with mutations on the Lamin A/C gene (LMNA). To date, more than 400 mutations in LMNA have been reported in patients.
Déborah Gómez-Domínguez +11 more
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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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Journal of Lipid Research, 2005 Prelamin A undergoes multistep processing to yield lamin A, a structural protein of the nuclear lamina. Prelamin A terminates with a CAAX motif, which triggers farnesylation of a C-terminal cysteine (the C of the CAAX motif), endoproteolytic release of ...
Stephen G. Young +2 more
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