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https://www.readbyqxmd.com/read/29669851/systemic-administration-of-the-antisense-oligonucleotide-ns-065-ncnp-01-for-skipping-of-exon-53-in-patients-with-duchenne-muscular-dystrophy
#1
Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53...
April 18, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29669427/vector-analysis-of-cytoskeleton-structural-tension-and-the-mechanisms-that-underpin-spectrin-related-forces-in-pyroptosis
#2
Tingting Chen, Yichen Guo, Jinjun Shan, Jiarui Zhang, Xu Shen, Jun Guo, Xiaoguang Margaret Liu
AIMS: Pyroptotic cells are characterized by plasma swelling, membrane blebbing, and disintegration of the cell membrane mediated by spectrin-based membrane skeleton and intercellular competitive tension activities. The spectrin-based membrane skeleton is involved in membrane organization through the regulation of intercellular tension. Using genetically encoded tension sensors to attain non-invasive force measurements in structural proteins, we investigated how cytoskeletal structural tension influences changes in plasma morphology during pyroptosis and the regulatory mechanism of cytoskeletal structural tension that underpins pyroptosis...
April 19, 2018: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29650975/author-correction-remodeling-of-the-actin-spectrin-membrane-associated-periodic-skeleton-growth-cone-collapse-and-f-actin-decrease-during-axonal-degeneration
#3
Nicolas Unsain, Martin D Bordenave, Gaby F Martinez, Sami Jalil, Catalina von Bilderling, Federico M Barabas, Luciano A Masullo, Aaron D Johnstone, Philip A Barker, Mariano Bisbal, Fernando D Stefani, Alfredo O Cáceres
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
April 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29623813/analysis-of-erythrocyte-membrane-proteins-in-patients-with-hereditary-spherocytosis-and-other-types-of-haemolytic-anaemia
#4
Atsushi Shibuya, Hiroaki Kawashima, Masato Tanaka
OBJECTIVES: In order to investigate the pathophysiology of erythrocyte membrane proteins, 10 patients (6 pre- and 4 post-splenectomy) with hereditary spherocytosis (HS) and other patients with haemolytic anaemia were examined. METHODS: The membrane proteins were analysed by biochemical and mass spectrometry. RESULTS: Reductions in the extracellular membrane of band 3 protein by eosin-5'-maleimide (EMA) binding test were greater in patients with pre-splenectomy HS than in patients with post-splenectomy HS, other types of haemolytic anaemia, and controls...
April 6, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29610350/myosin-iia-interacts-with-the-spectrin-actin-membrane-skeleton-to-control-red-blood-cell-membrane-curvature-and-deformability
#5
Alyson S Smith, Roberta B Nowak, Sitong Zhou, Michael Giannetto, David S Gokhin, Julien Papoin, Ionita C Ghiran, Lionel Blanc, Jiandi Wan, Velia M Fowler
The biconcave disk shape and deformability of mammalian RBCs rely on the membrane skeleton, a viscoelastic network of short, membrane-associated actin filaments (F-actin) cross-linked by long, flexible spectrin tetramers. Nonmuscle myosin II (NMII) motors exert force on diverse F-actin networks to control cell shapes, but a function for NMII contractility in the 2D spectrin-F-actin network of RBCs has not been tested. Here, we show that RBCs contain membrane skeleton-associated NMIIA puncta, identified as bipolar filaments by superresolution fluorescence microscopy...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29596596/%C3%AE-iii-spectrin-immunohistochemistry-as-a-potential-diagnostic-tool-with-high-sensitivity-for-malignant-peripheral-nerve-sheath-tumors
#6
Angela C Hirbe, Xiaochun Zhang, Sonika Dahiya, Abigail Godec, John Chrisinger, Yu Tao, Jingqin Luo, David H Gutmann
No abstract text is available yet for this article.
March 27, 2018: Neuro-oncology
https://www.readbyqxmd.com/read/29594000/nonimmune-hydrops-fetalis-due-to-autosomal-recessive-hereditary-spherocytosis
#7
Dawn M Hannah, Terry B Tressler, Claudia D Taboada
Background: Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis. Case: A 25 year old G5 P2112 at 25 2/7 weeks gestation presents with severe fetal anemia and nonimmune hydrops fetalis requiring multiple fetal intrauterine transfusions...
October 2017: Case Reports in Women's Health
https://www.readbyqxmd.com/read/29590601/do-skeletal-dynamics-mediate-sugar-uptake-and-transport-in-human-erythrocytes
#8
Robert J Asaro, Qiang Zhu, Pedro Cabrales, Anthony Carruthers
We explore, herein, the hypothesis that transport of molecules or ions into erythrocytes may be affected and directly stimulated by the dynamics of the spectrin/actin skeleton. Skeleton/actin motions are driven by thermal fluctuations that may be influenced by ATP hydrolysis as well as by structural alterations of the junctional complexes that connect the skeleton to the cell's lipid membrane. Specifically, we focus on the uptake of glucose into erythrocytes via glucose transporter 1 and on the kinetics of glucose disassociation at the endofacial side of glucose transporter 1...
March 27, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29579078/a-novel-high-throughput-immunofluorescence-analysis-method-for-quantifying-dystrophin-intensity-in-entire-transverse-sections-of-duchenne-muscular-dystrophy-muscle-biopsy-samples
#9
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of nonsense mutations and viral mediated gene therapy. In all these strategies, different dystrophin proteins, often internally deleted, are produced, similar to those found in patients with the milder DMD allelic variant, Becker muscular dystrophy (BMD). The primary biological endpoint of these trials is to induce functional dystrophin expression...
2018: PloS One
https://www.readbyqxmd.com/read/29565969/the-rna-binding-protein-celf1-post-transcriptionally-regulates-p27kip1-and-dnase2b-to-control-fiber-cell-nuclear-degradation-in-lens-development
#10
Archana D Siddam, Carole Gautier-Courteille, Linette Perez-Campos, Deepti Anand, Atul Kakrana, Christine A Dang, Vincent Legagneux, Agnès Méreau, Justine Viet, Jeffrey M Gross, Luc Paillard, Salil A Lachke
Opacification of the ocular lens, termed cataract, is a common cause of blindness. To become transparent, lens fiber cells undergo degradation of their organelles, including their nuclei, presenting a fundamental question: does signaling/transcription sufficiently explain differentiation of cells progressing toward compromised transcriptional potential? We report that a conserved RNA-binding protein Celf1 post-transcriptionally controls key genes to regulate lens fiber cell differentiation. Celf1-targeted knockout mice and celf1-knockdown zebrafish and Xenopus morphants have severe eye defects/cataract...
March 22, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29560432/altered-regulation-of-cardiac-ankyrin-repeat-protein-in-heart-failure
#11
Amber Kempton, Matt Cefalu, Cody Justice, Tesla Baich, Mohamed Derbala, Benjamin Canan, Paul M L Janssen, Peter J Mohler, Sakima A Smith
Background: Left ventricular assist devices (LVADs) have revolutionized and improved the care of the sickest heart failure (HF) patients, and it is imperative that they receive appropriate ventricular unloading. Assessing this critical parameter with current methodologies (labs, imaging) is usually suboptimal in this patient population. Hence it is imperative to elucidate the molecular underpinnings involved in ventricular unloading. We have previously identified the cytoskeletal protein βII spectrin as an essential nodal protein involved in post-translational targeting and βII spectrin protein levels are significantly altered in multiple forms of human and animal HF...
January 2018: Heliyon
https://www.readbyqxmd.com/read/29557213/spectrin-and-its-interacting-partners-in-nuclear-structure-and-function
#12
Muriel W Lambert
Nonerythroid αII-spectrin is a structural protein whose roles in the nucleus have just begun to be explored. αII-spectrin is an important component of the nucleoskelelton and has both structural and non-structural functions. Its best known role is in repair of DNA ICLs both in genomic and telomeric DNA. αII-spectrin aids in the recruitment of repair proteins to sites of damage and a proposed mechanism of action is presented. It interacts with a number of different groups of proteins in the nucleus, indicating it has roles in additional cellular functions...
March 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29555987/%C3%AE-2-spectrin-mediated-differentiation-repressed-the-properties-of-liver-cancer-stem-cells-through-%C3%AE-catenin
#13
Yuhua Chen, Lingling Meng, Haitao Shang, Qian Dou, Zhiwen Lu, Liping Liu, Zhijun Wang, Xingxing He, Yuhu Song
βII-Spectrin (β2SP), a Smad3/4 adaptor protein during transforming growth factor (TGF) β/Smad signal pathway, plays a critical role in suppressing hepatocarcinogenesis. Dedifferentiation is a distinctive feature of cancer progression. Therefore, we investigated whether the disruption of β2SP contributed to tumorigenesis of hepatocellular carcinoma (HCC) through the dedifferentiation. Down-regulation of β2SP in hepatocytes was observed in cirrhotic liver and HCC. The level of β2SP expression was closely associated with the differentiation status of hepatocytes in rat model of hepatocarcinogenesis and clinical specimens...
March 19, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29535188/dystrophin-s-central-domain-forms-a-complex-filament-that-becomes-disorganized-by-in-frame-deletions
#14
Olivier Delalande, Anne-Elisabeth Molza, Raphael Dos Santos-Morais, Angélique Chéron, Émeline Pollet, Céline Raguenes-Nicol, Christophe Tascon, Emmanuel Giudice, Marine Guilbaud, Aurélie Nicolas, Arnaud Bondon, France Leturcq, Nicolas Férey, Marc Baaden, Javier Perez, Pierre Roblin, France Piétri-Rouxel, Jean-François Hubert, Mirjam Czjzek, Elisabeth Le Rumeur
Dystrophin, encoded by the DMD gene, is critical for maintaining plasma membrane integrity during muscle contraction events. Mutations in the DMD gene disrupting the reading frame prevent dystrophin production and result in the high severe Duchenne muscular dystrophy (DMD); in-frame internal deletions allow production of partly functional internally deleted dystrophin and result in the less severe Becker muscular dystrophy (BMD). Many known BMD deletions occur in dystrophin's central domain, generally considered to be a monotonous rod-shaped domain based on the knowledge of spectrin-family proteins...
March 13, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29518289/sarcomeric-and-non-muscle-%C3%AE-actinin-isoforms-exhibit-differential-dynamics-at-skeletal-muscle-z-lines
#15
Cynthia P Hsu, Behzad Moghadaszadeh, John H Hartwig, Alan H Beggs
The α-actinin proteins are a highly conserved family of actin crosslinkers that mediate interactions between several cytoskeletal and sarcomeric proteins. Non-sarcomeric α-actinin-1 and α-actinin-4 crosslink actin filaments in the cytoskeleton, while sarcomeric α-actinin-2 and α-actinin-3 serve a crucial role in anchoring actin filaments to the muscle Z-line. To assess the difference in turnover dynamics and structure/function properties between the α-actinin isoforms at the sarcomeric Z-line, we used Fluorescence Recovery After Photobleaching (FRAP) in primary myofiber cultures...
March 8, 2018: Cytoskeleton
https://www.readbyqxmd.com/read/29506817/results-after-laparoscopic-partial-splenectomy-for-children-with-hereditary-spherocytosis-are-outcomes-influenced-by-genetic-mutation
#16
Jakob Pugi, Manuel Carcao, Luke J Drury, Jacob C Langer
BACKGROUND: Laparoscopic partial splenectomy (LPS) theoretically maintains long-term splenic immune function for children with hereditary spherocytosis (HS). Our goal was to review our results after LPS and to determine if specific genetic mutations influence outcome. METHODS: All children with HS undergoing LPS between 2005 and 2016 were reviewed. RESULTS: Thirty-one children underwent LPS (16 male) at a median age of 9 (range 2-18) years...
February 8, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29487227/nesprin-1-2-roles-in-nuclear-envelope-organisation-myogenesis-and-muscle-disease
#17
REVIEW
Can Zhou, Li Rao, Catherine M Shanahan, Qiuping Zhang
Nesprins (nuclear envelope spectrin repeat proteins) are multi-isomeric scaffolding proteins. Nesprin-1 and -2 are highly expressed in skeletal and cardiac muscles and together with SUN (Sad1p/UNC84) domain-containing proteins form the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex at the nuclear envelope in association with lamin A/C and emerin. Mutations in nesprin-1/2 have been found in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) as well as dilated cardiomyopathy (DCM)...
February 27, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29484404/novel-compound-heterozygous-spta1-mutations-in-a-patient-with-hereditary-elliptocytosis
#18
Shiyue Ma, Jinqiu Qin, Aiqiu Wei, Xiaohong Li, Yuanyuan Qin, Lin Liao, Faquan Lin
Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensity of eosin‑5‑maleimide (EMA)‑labeled erythrocytes was determined via flow cytometry. Subsequently, DNA was extracted from the peripheral blood of the proband and their family members, and amplified by quantitative polymerase chain reaction...
February 26, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29472997/a-new-python-library-to-analyse-skeleton-images-confirms-malaria-parasite-remodelling-of-the-red-blood-cell-membrane-skeleton
#19
Juan Nunez-Iglesias, Adam J Blanch, Oliver Looker, Matthew W Dixon, Leann Tilley
We present Skan (Skeleton analysis), a Python library for the analysis of the skeleton structures of objects. It was inspired by the "analyse skeletons" plugin for the Fiji image analysis software, but its extensive Application Programming Interface (API) allows users to examine and manipulate any intermediate data structures produced during the analysis. Further, its use of common Python data structures such as SciPy sparse matrices and pandas data frames opens the results to analysis within the extensive ecosystem of scientific libraries available in Python...
2018: PeerJ
https://www.readbyqxmd.com/read/29463856/impact-of-reduced-cerebellar-eaat-expression-on-purkinje-cell-firing-pattern-of-npc1-deficient-mice
#20
Michael Rabenstein, Franziska Peter, Arndt Rolfs, Moritz J Frech
Niemann-Pick disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease. NPC1-patients suffer, amongst others, from ataxia, based on a loss of cerebellar Purkinje cells (PCs). Impaired expression/function of excitatory amino acid transporters (EAATs) are suspected of contributing to PC-degeneration in hereditary spinocerebellar ataxias (SCAs). Thus, we studied EAAT-expression and its impact to PC-activity in NPC1-/- mice. Western blot revealed reduced EAAT1, EAAT2, EAAT4, and βIII-spectrin levels in NPC1-/- mice...
February 20, 2018: Scientific Reports
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