Results 11 to 20 of about 2,231 (116)

Essential Role for Telomeric Repeat-Binding Factor 2 in Cardiac Development and Function. [PDF]

FASEB Bioadv
This schematic illustrates a paradigm shift in telomere biology, demonstrating that Trf2 is a mandatory orchestrator of heart development and function through pathways distinct from its canonical telomere protective role. ABSTRACT Telomere repeat‐binding factor 2 (Trf2) is essential for protecting our telomeres.
Hakim Shoushtari A, Danis A, Stoner MW, Baust J, Sebastiani A, Bugga P, Manning JR, Mushala BAS, Bhattarai N, Al Ghouleh I, Scott I, Sharifi-Sanjani M.   +11 more
europepmc   +2 more sources

The Nesprin family member ANC-1 regulates synapse formation and axon termination by functioning in a pathway with RPM-1 and β-Catenin. [PDF]

PLoS Genetics, 2014
Mutations in Nesprin-1 and 2 (also called Syne-1 and 2) are associated with numerous diseases including autism, cerebellar ataxia, cancer, and Emery-Dreifuss muscular dystrophy.
Erik D Tulgren, Shane M Turgeon, Karla J Opperman, Brock Grill   +3 more
doaj   +1 more source

B Cells Adapt Their Nuclear Morphology to Organize the Immune Synapse and Facilitate Antigen Extraction

Frontiers in Immunology, 2022
Upon interaction with immobilized antigens, B cells form an immune synapse where actin remodeling and re-positioning of the microtubule-organizing center (MTOC) together with lysosomes can facilitate antigen extraction.
Romina Ulloa, Oreste Corrales, Fernanda Cabrera-Reyes, Jorge Jara-Wilde, Juan José Saez, Christopher Rivas, Jonathan Lagos, Steffen Härtel, Steffen Härtel, Clara Quiroga, Clara Quiroga, María-Isabel Yuseff, Jheimmy Diaz-Muñoz   +12 more
doaj   +1 more source

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family

Frontiers in Genetics, 2022
Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation.
Nannan Qian, Taohua Wei, Wenming Yang, Wenming Yang, Jiuxiang Wang, Shijie Zhang, Shan Jin, Wei Dong, Wei Dong, Wenjie Hao, Yue Yang, Ru Huang   +11 more
doaj   +1 more source

Spatiotemporal Mislocalization of Nuclear Membrane-Associated Proteins in γ-Irradiation-Induced Senescent Cells

Cells, 2020
Cellular senescence, induced by genotoxic or replication stress, is accompanied by defects in nuclear morphology and nuclear membrane-heterochromatin disruption.
Alena Svobodová Kovaříková, Eva Bártová, Aleš Kovařík, Emilie Lukášová   +3 more
doaj   +1 more source

Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.

PLoS Genetics, 2014
Recent interest has focused on the importance of the nucleus and associated nucleoskeleton in regulating changes in cardiac gene expression in response to biomechanical load.
Indroneal Banerjee, Jianlin Zhang, Thomas Moore-Morris, Emily Pfeiffer, Kyle S Buchholz, Ao Liu, Kunfu Ouyang, Matthew J Stroud, Larry Gerace, Sylvia M Evans, Andrew McCulloch, Ju Chen   +11 more
doaj   +1 more source

Drosophila Nesprin-1 controls glutamate receptor density at neuromuscular junctions [PDF]

Cellular and Molecular Life Sciences, 2014
Marie-Laure Parmentier, Laurent Schaeffer, veronique Morel   +2 more
exaly   +2 more sources

Cytoskeletal Interactions at the Nuclear Envelope Mediated by Nesprins

International Journal of Cell Biology, 2012
Nesprin-1 is a giant tail-anchored nuclear envelope protein composed of an N-terminal F-actin binding domain, a long linker region formed by multiple spectrin repeats and a C-terminal transmembrane domain. Based on this structure, it connects the nucleus
Surayya Taranum, Ilknur Sur, Rolf Müller, Wenshu Lu, R. N. Rashmi, Martina Munck, Sascha Neumann, Iakowos Karakesisoglou, Angelika A. Noegel   +8 more
doaj   +1 more source

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Acta Neuropathologica Communications, 2022
Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity. The clinical presentation of affected individuals ranges from severe perinatal muscle weakness to milder childhood-onset forms, and the disease course and ...
Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio Abath Neto, Julien Fauré, Béatrice Lannes, Vincent Laugel, Sandra Coppens, Fabiana Lubieniecki, Ana Buj Bello, Nigel Laing, Teresinha Evangelista, Jocelyn Laporte, Johann Böhm, Norma B. Romero   +29 more
doaj   +1 more source

Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.

PLoS ONE, 2012
BackgroundNesprins (Nuclear envelope spectrin-repeat proteins) are a novel family of giant spectrin-repeat containing proteins. The nesprin-1 and nesprin-2 genes consist of 146 and 116 exons which encode proteins of ∼1mDa and ∼800 kDa is size ...
Dipen Rajgor, Jason A Mellad, Flavia Autore, Qiuping Zhang, Catherine M Shanahan   +4 more
doaj   +1 more source