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Nucleus

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https://www.readbyqxmd.com/read/30272509/the-karyosphere-capsule-in-rana-temporaria-oocytes-contains-structural-and-dna-binding-proteins
#1
Nadya Ilicheva, Olga Podgornaya, Dmitry Bogolyubov, Galina Pochukalina
During the last stages of oogenesis, oocyte chromosomes condense and come close together, forming the so-called karyosphere. Karyosphere formation is accompanied by an essential decrease in transcriptional activity. In the grass frog Rana temporaria, the karyosphere is surrounded by an extrachromosomal capsule that separates the chromosomes from the rest of the nucleoplasm. The karyosphere capsule (KC) of R. temporaria has been investigated in detail at the ultrastructural level, but its protein composition remained largely unkn-own...
October 1, 2018: Nucleus
https://www.readbyqxmd.com/read/30220251/depletion-of-nesprin-2-is-associated-with-an-embryonic-lethal-phenotype-in-mice
#2
Carmen Mroß, Marija Marko, Martina Munck, Gernot Glöckner, Susanne Motameny, Janine Altmüller, Angelika A Noegel, Ludwig Eichinger, Vivek S Peche, Sascha Neumann
Nesprin-2 is a nuclear envelope component and provides a link between cytoskeletal components of the cytoplasm and the nucleoplasm. Several isoforms are generated from its gene Syne2 by the use of alternative promoters and alternative splicing. Loss of the largest isoform Nesprin-2 Giant in mice is associated with a skin phenotype and altered wound healing, loss of C-terminal isoforms in mice leads to cardiomyopathies and neurological defects. Here we attempted to establish mice with an inducible knockout of all Nesprin-2 isoforms by inserting shRNA encoding sequences targeting the N- and C-terminus into the ROSA26 locus of mice...
September 17, 2018: Nucleus
https://www.readbyqxmd.com/read/30217128/nanoparticle-mediated-delivery-and-small-molecule-triggered-activation-of-proteins-in-the-nucleus
#3
Hsin-Yi Chiu, Jack A Bates, Jonas Helma, Hanna Engelke, Hartmann Harz, Thomas Bein, Heinrich Leonhardt
Protein transfection is a versatile tool to study or manipulate cellular processes and also shows great therapeutic potential. However, the repertoire of cost effective techniques for efficient and minimally cytotoxic delivery remains limited. Mesoporous silica nanoparticles (MSNs) are multifunctional nanocarriers for cellular delivery of a wide range of molecules, they are simple and economical to synthesize and have shown great promise for protein delivery. In this work we present a general strategy to optimize the delivery of active protein to the nucleus...
September 14, 2018: Nucleus
https://www.readbyqxmd.com/read/30205748/dna-entry-exit-and-second-dna-capture-by-cohesin-insights-from-biochemical-experiments
#4
Yasuto Murayama
Cohesin is a ring-shaped, multi-subunit ATPase assembly that is fundamental to the spatiotemporal organization of chromosomes. The ring establishes a variety of chromosomal structures including sister chromatid cohesion and chromatin loops. At the core of the ring is a pair of highly conserved SMC (Structural Maintenance of Chromosomes) proteins, which are closed by the flexible kleisin subunit. In common with other essential SMC complexes including condensin and the SMC5-6 complex, cohesin encircles DNA inside its cavity, with the aid of HEAT (Huntingtin, elongation factor 3, protein phosphatase 2A and TOR) repeat auxiliary proteins...
September 11, 2018: Nucleus
https://www.readbyqxmd.com/read/30205747/simultaneous-dual-channel-imaging-to-quantify-interdependent-protein-recruitment-to-laser-induced-dna-damage-sites
#5
Joachim Garbrecht, Harald Hornegger, Sebastien Herbert, Tanja Kaufmann, Josef Gotzmann, Kareem Elsayad, Dea Slade
Fluorescence microscopy in combination with the induction of localized DNA damage using focused light beams has played a major role in the study of protein recruitment kinetics to DNA damage sites in recent years. Currently published methods are dedicated to the study of single fluorophore/single protein kinetics. However, these methods may be limited when studying the relative recruitment dynamics between two or more proteins due to cell-to-cell variability in gene expression and recruitment kinetics, and are not suitable for comparative analysis of fast-recruiting proteins...
September 11, 2018: Nucleus
https://www.readbyqxmd.com/read/30196754/nonreplicative-functions-of-the-origin-recognition-complex
#6
Varvara V Popova, Alexander V Brechalov, Sofia G Georgieva, Daria V Kopytova
Origin recognition complex (ORC), a heteromeric six-subunit complex, is the central component of the eukaryotic pre-replication complex. Recent data from yeast, frogs, flies and mammals present compelling evidence that ORC and its individual subunits have nonreplicative functions as well. The majority of these functions, such as heterochromatin formation, chromosome condensation, and segregation are dependent on ORC-DNA interactions. Furthermore, ORC is involved in the control of cell division via its participation in centrosome duplication and cytokinesis...
September 8, 2018: Nucleus
https://www.readbyqxmd.com/read/29936894/genomic-instability-and-dna-replication-defects-in-progeroid-syndromes
#7
Romina Burla, Mattia La Torre, Chiara Merigliano, Fiammetta Vernì, Isabella Saggio
Progeroid syndromes induced by mutations in lamin A or in its interactors - named progeroid laminopathies - are model systems for the dissection of the molecular pathways causing physiological and premature aging. A large amount of data, based mainly on the Hutchinson Gilford Progeria syndrome (HGPS), one of the best characterized progeroid laminopathy, has highlighted the role of lamins in multiple DNA activities, including replication, repair, chromatin organization and telomere function. On the other hand, the phenotypes generated by mutations affecting genes directly acting on DNA function, as mutations in the helicases WRN and BLM or in the polymerase polδ, share many of the traits of progeroid laminopathies...
December 31, 2018: Nucleus
https://www.readbyqxmd.com/read/30059280/kdm2a-b-lysine-demethylases-and-their-alternative-isoforms-in-development-and-disease
#8
Tomáš Vacík, Dijana Lađinović, Ivan Raška
Aberrant levels of histone modifications lead to chromatin malfunctioning and consequently to various developmental defects and human diseases. Therefore, the proteins bearing the ability to modify histones have been extensively studied and the molecular mechanisms of their action are now fairly well understood. However, little attention has been paid to naturally occurring alternative isoforms of chromatin modifying proteins and to their biological roles. In this review, we focus on mammalian KDM2A and KDM2B, the only two lysine demethylases whose genes have been described to produce also an alternative isoform lacking the N-terminal demethylase domain...
July 30, 2018: Nucleus
https://www.readbyqxmd.com/read/29912636/analysis-of-rna-seq-datasets-reveals-enrichment-of-tissue-specific-splice-variants-for-nuclear-envelope-proteins
#9
Charlotte Capitanchik, Charles Dixon, Selene K Swanson, Laurence Florens, Alastair R W Kerr, Eric C Schirmer
Nuclear envelopathies/laminopathies yield tissue-specific pathologies, yet arise from mutation of ubiquitously-expressed genes. One possible explanation of this tissue specificity is that tissue-specific partners become disrupted from larger complexes, but a little investigated alternate hypothesis is that the mutated proteins themselves have tissue-specific splice variants. Here, we analyze RNA-Seq datasets to identify muscle-specific splice variants of nuclear envelope genes that could be relevant to the study of laminopathies, particularly muscular dystrophies, that are not currently annotated in sequence databases...
June 18, 2018: Nucleus
https://www.readbyqxmd.com/read/30131000/polycystic-ovary-syndrome-in-familial-partial-lipodystrophy-type-2-fpld2-basic-and-clinical-aspects
#10
Alessandra Gambineri, Laura Zanotti
Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the environment. However, PCOS may be a complication of an underlying syndrome of severe IR such as insulin receptor autoantibodies, mutations in the insulin receptor or in the signalling pathway downstream from the insulin receptor or, most frequently, a defect in function or in the development of the subcutaneous adipose tissue...
2018: Nucleus
https://www.readbyqxmd.com/read/30130999/cardiolaminopathies-from-bench-to-bedside-challenges-in-clinical-decision-making-with-focus-on-arrhythmia-related-outcomes
#11
Giuseppe Boriani, Elena Biagini, Matteo Ziacchi, Vincenzo Livio Malavasi, Marco Vitolo, Marisa Talarico, Erminio Mauro, Giulia Gorlato, Giovanna Lattanzi
Lamin A/C gene mutations can be associated with cardiac diseases, usually referred to as 'cardiolaminopathies' characterized by arrhythmic disorders and/or left ventricular or biventricular dysfunction up to an overt picture of heart failure. The phenotypic cardiac manifestations of laminopathies are frequently mixed in complex clinical patterns and specifically may include bradyarrhythmias (sinus node disease or atrioventricular blocks), atrial arrhythmias (atrial fibrillation, atrial flutter, atrial standstill), ventricular tachyarrhythmias and heart failure of variable degrees of severity...
2018: Nucleus
https://www.readbyqxmd.com/read/29943658/nucleolin-modulates-compartmentalization-and-dynamics-of-histone-2b-ecfp-in-the-nucleolus
#12
Ayantika Sen Gupta, Gaurav Joshi, Sumit Pawar, Kundan Sengupta
Eukaryotic cells have 2 to ​3 discrete nucleoli required for ribosome synthesis. Nucleoli are phase separated nuclear sub-organelles. Here we examined the role of nuclear Lamins and nucleolar factors in modulating the compartmentalization and dynamics of histone 2B (H2B-ECFP) in the nucleolus. Live imaging and Fluorescence Recovery After Photobleaching (FRAP) of labelled H2B, showed that the depletion of Lamin B1, Fibrillarin (FBL) or Nucleostemin (GNL3), enhances H2B-ECFP mobility in the nucleolus. Furthermore, Nucleolin knockdown significantly decreases H2B-ECFP compartmentalization in the nucleolus, while H2B-ECFP residence and mobility in the nucleolus was prolonged upon Nucleolin overexpression...
2018: Nucleus
https://www.readbyqxmd.com/read/29929425/updated-clinical-overview-on-cardiac-laminopathies-an-electrical-and-mechanical-disease
#13
G Peretto, S Sala, S Benedetti, C Di Resta, L Gigli, M Ferrari, P Della Bella
Cardiac laminopathies, associated with mutations in the LMNA gene, encompass a wide spectrum of clinical manifestations, involving electrical and mechanical alterations of cardiomyocytes. Thus, dilated cardiomyopathy, bradyarrhythmias and atrial or ventricular tachyarrhythmias may occur in a number of combined phenotypes. Nowadays, some attempt has been made to identify clinical predictors for the most life-threatening complications of LMNA-associated heart disease, i.e. sudden cardiac death and end-stage heart failure...
2018: Nucleus
https://www.readbyqxmd.com/read/29895224/up-regulation-of-toll-like-receptors-7-and-9-and-its-potential-implications-in-the-pathogenic-mechanisms-of-lmna-related-myopathies
#14
Cristina Cappelletti, Franco Salerno, Eleonora Canioni, Marina Mora, Renato Mantegazza, Pia Bernasconi, Lorenzo Maggi
Laminopathies are a heterogeneous group of diseases, caused by mutations in lamin A/C proteins. The most common laminopathy (LMNA-related myopathies, LMNA-RM) affects skeletal and cardiac muscles; muscle histopathology is variable, ranging from mild unspecific changes to dystrophic features, sometimes with inflammatory evidence. Whether the genetic defect might activate innate immune components, leading to chronic inflammation, myofiber necrosis and fibrosis, is still unknown. By qPCR, a significant up-regulation of Toll-like receptor (TLR) 7 and 9 transcripts was found in LMNA-RM compared to other myopathic and non-myopathic muscles...
2018: Nucleus
https://www.readbyqxmd.com/read/29746202/corrigendum
#15
(no author information available yet)
No abstract text is available yet for this article.
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29693488/elevated-tgf-%C3%AE-2-serum-levels-in-emery-dreifuss-muscular-dystrophy-implications-for-myocyte-and-tenocyte-differentiation-and-fibrogenic-processes
#16
Pia Bernasconi, Nicola Carboni, Giulia Ricci, Gabriele Siciliano, Luisa Politano, Lorenzo Maggi, Tiziana Mongini, Liliana Vercelli, Carmelo Rodolico, Elena Biagini, Giuseppe Boriani, Lucia Ruggiero, Lucio Santoro, Elisa Schena, Sabino Prencipe, Camilla Evangelisti, Elena Pegoraro, Lucia Morandi, Marta Columbaro, Chiara Lanzuolo, Patrizia Sabatelli, Paola Cavalcante, Cristina Cappelletti, Gisèle Bonne, Antoine Muchir, Giovanna Lattanzi
Among rare diseases caused by mutations in LMNA gene, Emery-Dreifuss Muscular Dystrophy type 2 and Limb-Girdle muscular Dystrophy 1B are characterized by muscle weakness and wasting, joint contractures, cardiomyopathy with conduction system disorders. Circulating biomarkers for these pathologies have not been identified. Here, we analyzed the secretome of a cohort of patients affected by these muscular laminopathies in the attempt to identify a common signature. Multiplex cytokine assay showed that transforming growth factor beta 2 (TGF β2) and interleukin 17 serum levels are consistently elevated in the vast majority of examined patients, while interleukin 6 and basic fibroblast growth factor are altered in subgroups of patients...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29637811/causes-and-consequences-of-genomic-instability-in-laminopathies-replication-stress-and-interferon-response
#17
Simona Graziano, Ray Kreienkamp, Nuria Coll-Bonfill, Susana Gonzalo
Mammalian nuclei are equipped with a framework of intermediate filaments that function as a karyoskeleton. This nuclear scaffold, formed primarily by lamins (A-type and B-type), maintains the spatial and functional organization of the genome and of sub-nuclear compartments. Over the past decade, a body of evidence has highlighted the significance of these structural nuclear proteins in the maintenance of nuclear architecture and mechanical stability, as well as genome function and integrity. The importance of these structures is now unquestioned given the wide range of degenerative diseases that stem from LMNA gene mutations, including muscular dystrophy disorders, peripheral neuropathies, lipodystrophies, and premature aging syndromes...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29633897/clinical-aspects-of-emery-dreifuss-muscular-dystrophy
#18
Agnieszka Madej-Pilarczyk
Emery-Dreifuss muscular dystrophy (EDMD), clinically characterized by scapulo-humero-peroneal muscle atrophy and weakness, multi-joint contractures with spine rigidity and cardiomyopathy with conduction defects, is associated with structural/functional defect of genes that encode the proteins of nuclear envelope, including lamin A and several lamin-interacting proteins. This paper presents clinical aspects of EDMD in context to causative genes, genotype-phenotype correlation and its emplacement within phenotypic spectrum of skeletal muscle diseases associated with envelopathies...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29619865/mechanotransduction-nuclear-architecture-and-epigenetics-in-emery-dreifuss-muscular-dystrophy-tous-pour-un-un-pour-tous
#19
Andrea Bianchi, Pierluigi Giuseppe Manti, Federica Lucini, Chiara Lanzuolo
The alteration of the several roles that Lamin A/C plays in the mammalian cell leads to a broad spectrum of pathologies that - all together - are named laminopathies. Among those, the Emery Dreifuss Muscular Dystrophy (EDMD) is of particular interest as, despite the several known mutations of Lamin A/C, the genotype-phenotype correlation still remains poorly understood; this suggests that the epigenetic background of patients might play an important role during the time course of the disease. Historically, both a mechanical role of Lamin A/C and a regulative one have been suggested as the driving force of laminopathies; however, those two hypotheses are not mutually exclusive...
January 1, 2018: Nucleus
https://www.readbyqxmd.com/read/29619863/an-overview-of-treatment-strategies-for-hutchinson-gilford-progeria-syndrome
#20
Karim Harhouri, Diane Frankel, Catherine Bartoli, Patrice Roll, Annachiara De Sandre-Giovannoli, Nicolas Lévy
Hutchinson-Gilford progeria syndrome (HGPS) is a sporadic, autosomal dominant disorder characterized by premature and accelerated aging symptoms leading to death at the mean age of 14.6 years usually due to cardiovascular complications. HGPS is caused by a de novo point mutation in the LMNA gene encoding the intermediate filament proteins lamins A and C which are structural components of the nuclear lamina. This mutation leads to the production of a truncated toxic form of lamin A, issued from aberrant splicing and called progerin...
January 1, 2018: Nucleus
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