Results 21 to 30 of about 14,545 (178)
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy [PDF]
Human Genome Variation, 2018 AbstractLMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for muscle diseases to obtain a molecular ...
Akihiko Ishiyama +7 more
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LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice. [PDF]
PLoS ONE, 2010 The lamin A/C (LMNA), nuclear intermediate filament proteins, is a basic component of the nuclear lamina. Mutations in LMNA are associated with a broad range of laminopathies, congenital diseases affecting tissue regeneration and homeostasis.
Dan Lu +6 more
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Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies
Nucleus, 2020 Decades of studies have established that nuclear lamin polymers form the nuclear lamina, a protein meshwork that supports the nuclear envelope structure and tethers heterochromatin to the nuclear periphery.
Sunny Yang Liu, Kohta Ikegami
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Frontiers in Cell and Developmental Biology, 2022 In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. We found that LMNA
Roberta De Zio +10 more
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Construction of HEK293 and C2C12 cell models transfected by LMNA mutant and related intracellular sublocalization of lamin A/C [PDF]
Jichu yixue yu linchuang, 2020 Objective To construct an expression vector of fusion protein from wild type LMNA and mutant and the lentivirus vector of LMNA mutant, to study the expression and sublocalization of lamin A/C and the change of nucleus in HEK293 and C2C12 cells.
TAN Dan-dan, CHAI Jing-yan, LIU Jian-yun, NIE Hong-bing, XIONG Hui, WU Xiang-bin
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Viscoelastic behavior of cardiomyocytes carrying LMNA mutations [PDF]
Biorheology: The Official Journal of the International Society of Biorheology, 2020 BACKGROUND: Laminopathies are genetic diseases caused by mutations in the nuclear lamina. OBJECTIVE: Given the clinical impact of laminopathies, understanding mechanical properties of cells bearing lamin mutations will lead to ...
Daniele Bori +5 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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Nucleus, 2023 Several related progeroid disorders are caused by defective post-translational processing of prelamin A, the precursor of the nuclear scaffold protein lamin A, encoded by LMNA.
Kamsi O. Odinammadu +5 more
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Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations [PDF]
Human Mutation, 2011 Mutations in LMNA cause a variety of diseases affecting striated muscle including autosomal Emery-Dreifuss muscular dystrophy (EDMD), LMNA-associated congenital muscular dystrophy (L-CMD), and limb-girdle muscular dystrophy type 1B (LGMD1B). Here, we describe novel and recurrent LMNA mutations identified in 50 patients from the United States and Canada,
Scharner, Juergen +16 more
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PLoS ONE, 2017 Aminoacyl-tRNA synthetases-interacting multifunctional protein3 (AIMP3/p18) is involved in the macromolecular tRNA synthetase complex via its interaction with several aminoacyl-tRNA synthetases.
Yeqing Tao +5 more
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