Results 31 to 40 of about 23,382 (212)

The telomeric protein AKTIP interacts with A- and B-type lamins and is involved in regulation of cellular senescence [PDF]

, 2016
AKTIP is a shelterin-interacting protein required for replication of telomeric DNA. Here, we show that AKTIP biochemically interacts with A- and B-type lamins and affects lamin A, but not lamin C or B, expression.
Astrologo, Letizia, Biroccio, Annamaria, Burla, Romina, Carcuro, Mariateresa, Crescenzi, Marco, Cundari, Enrico, D'Apice, Maria Rosaria, Fratini, Federica, Gatti, Maurizio, LA TORRE, Mattia, Lattanzi, Giovanna, Raffa, GRAZIA DANIELA, Raimondo, Domenico, Saggio, Isabella, Spitalieri, Paola   +14 more
core   +2 more sources

Altered modulation of lamin A/C-HDAC2 interaction and p21 expression during oxidative stress response in HGPS [PDF]

, 2018
Defects in stress response are main determinants of cellular senescence and organism aging. In fibroblasts from patients affected by Hutchinson-Gilford progeria, a severe LMNA-linked syndrome associated with bone resorption, cardiovascular disorders, and
Andrenacci, Davide, Cicchilitti, Lucia, Di Blasio, Anna Maria, Garofalo, Cecilia, Gentilini, Davide, Lattanzi, Giovanna, Mai, Antonello, Mattioli, Elisabetta, Piaggio, Giulia, Prencipe, Sabino, Remondini, Daniel, Scarano, Emanuela, Scotlandi, Katia, Valente, Sergio   +13 more
core   +2 more sources

Nuclear rupture at sites of high curvature compromises retention of DNA repair factors. [PDF]

, 2018
The nucleus is physically linked to the cytoskeleton, adhesions, and extracellular matrix-all of which sustain forces, but their relationships to DNA damage are obscure. We show that nuclear rupture with cytoplasmic mislocalization of multiple DNA repair
Alshareeda, Alvey, Andrea J. Liu, Broers, Burma, Buxboim, Buxboim, Capo-chichi, Chang, Charlotte R. Pfeifer, Coffinier, Cory M. Alvey, Cumming, Darzynkiewicz, Das, Dazhen Liu, de la Rosa, De Vos, Denais, Dennis E. Discher, Dingal, Docheva, Elosegui-Artola, Fong, Frigault, Grundy, Gudmundsdottir, Harada, Harding, Hatch, Hategan, Hernandez, Irena L. Ivanovska, Irianto, Ivanovska, Jerome Irianto, Jiazheng Ji, Kaspi, Kuangzheng Zhu, Lammerding, Larrieu, Levental, Lucas Smith, Nuciforo, Odde, Oh, Raab, Rachel R. Bennett, Roger A. Greenberg, Saez, Samudram, Sangkyun Cho, Schneider, Seluanov, Shin, Soubeyrand, Staszewski, Swift, Takaki, Tamiello, Tang, Turgay, Wang, Yuntao Xia, Álvarez-Quilón   +64 more
core   +2 more sources

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes [PDF]

, 2020
Background: Accurate interpretation of rare genetic variants is a challenge for clinical translation. Updates in recommendations for rare variant classification require the reanalysis and reclassification.
Abou Tayoun, Ackerman, Ackerman, Amendola, Bennett, Blekhman, Bombard, Campuzano, Chen, David, Denham, Dunn, Eilbeck, El Mecky, Harrison, Kobayashi, Lek, Macklin, Moreno, Priori, Richards, Richards, Semsarian, Smith, Tsai, Vears, Walsh, Wordsworth   +27 more
core   +1 more source

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, L. N. Sivitskaya, T. V. Kurushko, O. D. Levdansky, N. G. Danilenko   +4 more
doaj   +1 more source

Pushing the (nuclear) envelope into meiosis. [PDF]

, 2013
A recent study shows that a short isoform of a mammalian nuclear lamin is important for homologous chromosome interactions during meiotic prophase in ...
Dernburg, Abby F
core   +1 more source

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient

Frontiers in Cardiovascular Medicine, 2022
Pathogenic variants in the LMNA gene are known to cause laminopathies, a broad range of disorders with different clinical phenotypes. LMNA genetic variants lead to tissue-specific pathologies affecting various tissues and organs. Common manifestations of
Kseniya Perepelina, Kseniya Perepelina, Anastasia Zaytseva, Anastasia Zaytseva, Aleksandr Khudiakov, Irina Neganova, Elena Vasichkina, Anna Malashicheva, Anna Malashicheva, Anna Kostareva, Anna Kostareva   +10 more
doaj   +1 more source

Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis [PDF]

, 2004
Hutchinson-Gilford progeria syndrome is a rare genetic disorder that mimics certain aspects of aging prematurely. Recent work has revealed that mutations in the lamin A gene are a cause of the disease.
Bridger, JM, Kill, IR
core   +1 more source

Reactivation of autophagy amelioratesLMNAcardiomyopathy [PDF]

Autophagy, 2013
Mutations in the LMNA gene, which encodes lamin A and C (lamin A/C), cause a diverse spectrum of tissue-selective diseases termed laminopathies. The most prevalent form affects striated muscles as dilated cardiomyopathy with variable skeletal muscle involvement, which includes autosomal Emery-Dreifuss muscular dystrophy.
Jason C, Choi, Howard J, Worman
openaire   +2 more sources

Mapping the contact surfaces in the Lamin A:AIMP3 complex by hydrogen/deuterium exchange FT-ICR mass spectrometry.

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, Pengfei Fang, Sunghoon Kim, Min Guo, Nicolas L Young, Alan G Marshall   +5 more
doaj   +1 more source