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Procedure: Gastroschisis Repair
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Total 132 results found since Jan 2013.
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage
Filamin c (FLNc) is a large dimeric actin-binding protein located at premyofibrils, myofibrillar Z-discs and myofibrillar attachment sites of striated muscle cells, where it is involved in mechanical stabilization, mechanosensation and intracellular signaling. Mutations in the gene encoding FLNc give rise to skeletal muscle diseases and cardiomyopathies. Here, we demonstrate by fluorescence recovery after photobleaching that a large fraction of FLNc is highly mobile in cultured neonatal mouse cardiomyocytes and in cardiac and skeletal muscles of live transgenic zebrafish embryos. Analysis of cardiomyocytes from Xirp1 and X...
Source: Human Molecular Genetics - November 27, 2016 Category: Genetics & Stem Cells Authors: Leber, Y., Ruparelia, A. A., Kirfel, G., van der Ven, P. F. M., Hoffmann, B., Merkel, R., Bryson-Richardson, R. J., Fürst, D. O. Tags: ARTICLES Source Type: research
Dysferlin Stimulates SNARE-mediated Membrane Fusion Molecular Biophysics
In this study we demonstrate a direct interaction between dysferlin and the SNARE proteins syntaxin 4 and SNAP-23. In addition, analysis of FRET and in vitro reconstituted lipid mixing assays indicate that dysferlin accelerates syntaxin 4/SNAP-23 heterodimer formation and SNARE-mediated lipid mixing in a calcium-sensitive manner. These results support a function for dysferlin as a calcium-sensing SNARE effector for membrane fusion events.
Source: Journal of Biological Chemistry - July 7, 2016 Category: Chemistry Authors: Codding, S. J., Marty, N., Abdullah, N., Johnson, C. P. Tags: Membrane Biology Source Type: research
Mutations Inhibits VCP SUMOylation and Stress Response Cell Biology
Valosin-containing protein/p97(VCP) is a hexameric ATPase vital to protein degradation during endoplasmic reticulum stress. It regulates diverse cellular functions including autophagy, chromatin remodeling, and DNA repair. In addition, mutations in VCP cause inclusion body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD), as well as amyotrophic lateral sclerosis. Nevertheless, how the VCP activities were regulated and how the pathogenic mutations affect the function of VCP during stress are not unclear. Here we show that the small ubiquitin-like modifier (SUMO)-ylation of VCP is a normal stress res...
Source: Journal of Biological Chemistry - June 30, 2016 Category: Chemistry Authors: Wang, T., Xu, W., Qin, M., Yang, Y., Bao, P., Shen, F., Zhang, Z., Xu, J. Tags: Molecular Bases of Disease Source Type: research
Membrane repair of human skeletal muscle cells requires Annexin-A5
Publication date: September 2016 Source:Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, Volume 1863, Issue 9 Author(s): Romain Carmeille, Flora Bouvet, Sisareuth Tan, Coralie Croissant, Céline Gounou, Kamel Mamchaoui, Vincent Mouly, Alain R. Brisson, Anthony Bouter Defect in membrane repair contributes to the development of limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. In healthy skeletal muscle, unraveling membrane repair mechanisms requires to establish an exhaustive list of the components of the resealing machinery. Here we show that human myotubes rendered deficient fo...
Source: Biochimica et Biophysica Acta (BBA) Molecular Cell Research - June 17, 2016 Category: Molecular Biology Source Type: research
Membrane repair of human skeletal muscle cells requires Annexin-A5.
Abstract
Defect in membrane repair contributes to the development of limb girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. In healthy skeletal muscle, unraveling membrane repair mechanisms requires to establish an exhaustive list of the components of the resealing machinery. Here we show that human myotubes rendered deficient for Annexin-A5 (AnxA5) suffer from a severe defect in membrane resealing. This defect is rescued by the addition of recombinant AnxA5 while an AnxA5 mutant, which is unable to form 2D protein arrays, has no effect. Using correlative light and electron microscopy, we show that ...
Source: Biochimica et Biophysica Acta - June 6, 2016 Category: Biochemistry Authors: Carmeille R, Bouvet F, Tan S, Croissant C, Gounou C, Mamchaoui K, Mouly V, Brisson AR, Bouter A Tags: Biochim Biophys Acta Source Type: research
Clinicopathological Features of Anti-NT5c1A Positive Patients in the Group of Myositis Patients with CD8-MHC-1 Complex Pathology (P5.030)
Conclusions: There were no significant difference in the rate of anti-NT5c1A antibody positivity among the patients with sIBM, PM and intermediary group. Seropositivity doesn’t associate with the treatment ineffectiveness in the patients with CD8-MHC-1 complex.Disclosure: Dr. Ikenaga has nothing to disclose. Dr. Maeda has nothing to disclose. Dr. Tsuji has nothing to disclose. Dr. Shimizu has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Ikenaga, C., Maeda, M., Tsuji, S., Shimizu, J. Tags: Pathomechanism and Biomarkers in Muscle Diseases and Myasthenia Source Type: research
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice
Publication date: Available online 24 February 2016 Source:Mitochondrion Author(s): Sylvie Bannwarth, Laetitia Berg-Alonso, Gaëlle Augé, Konstantina Fragaki, Jill E. Kolesar, Françoise Lespinasse, Sandra Lacas-Gervais, Fanny Burel-Vandenbos, Elodie Villa, Frances Belmonte, Jean-François Michiels, Jean-Ehrland Ricci, Romain Gherardi, Lea Harrington, Brett A. Kaufman, Véronique Paquis-Flucklinger Mutations in genes coding for mitochondrial helicases such as TWINKLE and DNA2 are involved in mitochondrial myopathies with mtDNA instability in both human and mouse. We show that inactivation of Pif1, a thir...
Source: Mitochondrion - March 3, 2016 Category: Biochemistry Source Type: research
Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray RESEARCH ARTICLE
ABSTRACT
The Smyd1 gene encodes a lysine methyltransferase specifically expressed in striated muscle. Because Smyd1-null mouse embryos die from heart malformation prior to formation of skeletal muscle, we developed a Smyd1 conditional-knockout allele to determine the consequence of SMYD1 loss in mammalian skeletal muscle. Ablation of SMYD1 specifically in skeletal myocytes after myofiber differentiation using Myf6cre produced a non-degenerative myopathy. Mutant mice exhibited weakness, myofiber hypotrophy, prevalence of oxidative myofibers, reduction in triad numbers, regional myofibrillar disorganization/breakdown and a h...
Source: DMM Disease Models and Mechanisms - March 2, 2016 Category: Biomedical Science Authors: Stewart, M. D., Lopez, S., Nagandla, H., Soibam, B., Benham, A., Nguyen, J., Valenzuela, N., Wu, H. J., Burns, A. R., Rasmussen, T. L., Tucker, H. O., Schwartz, R. J. Tags: RESEARCH ARTICLE Source Type: research
Ebstein anomaly review: what's now, what's next?
Authors: Dearani JA, Mora BN, Nelson TJ, Haile DT, O'Leary PW
Abstract
Ebstein anomaly accounts for 1% of all congenital heart disease. It is a right ventricular myopathy with failure of tricuspid valve delamination and highly variable tricuspid valve morphology that usually results in severe regurgitation. It is the only congenital heart lesion that has a range of clinical presentations, from the severely symptomatic neonate to an asymptomatic adult. Neonatal operation has high operative mortality, whereas operation performed beyond infancy and into adulthood has low operative mortality. Late survival and quality ...
Source: Expert Review of Cardiovascular Therapy - February 17, 2016 Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
In conclusion, fibroblasts from dysferlinopathy patients and SJL mice showed attenuated membrane repair, and could be a research tool to monitor the effects of drug candidate including proteasome inhibitors on mutant dysferlin.
Competing Interests
The authors have declared that no competing interests exist.
Correspondence
The corresponding author can be contacted at cmatsuda@ncnp.go.jp.
Source: PLOS Currents Muscular Dystrophy - October 29, 2015 Category: Neurology Authors: Chie Matsuda Source Type: research
The impact of statins on biological characteristics of stem cells provides a novel explanation for their pleiotropic beneficial and adverse clinical effects
Statins reduce atherosclerotic events and cardiovascular mortality. Their side effects include memory loss, myopathy, cataract formation, and increased risk of diabetes. As cardiovascular mortality relates to plaque instability, which depends on the integrity of the fibrous cap, we hypothesize that the inhibition of the potential of mesenchymal stem cells (MSCs) to differentiate into macrophages would help to explain the long known, but less understood "non-lipid-associated" or pleiotropic benefit of statins on cardiovascular mortality. In the present investigation, MSCs were treated with atorvastatin or pravastatin at cli...
Source: AJP: Cell Physiology - October 15, 2015 Category: Cytology Authors: Izadpanah, R., Schachtele, D. J., Pfnur, A. B., Lin, D., Slakey, D. P., Kadowitz, P. J., Alt, E. U. Tags: CALL FOR PAPERS Source Type: research
Dysferlin deficiency blunts β-adrenergic dependent lusitropic function of mouse heart.
This article is protected by copyright. All rights reserved.
PMID: 26415898 [PubMed - as supplied by publisher]
Source: The Journal of Physiology - September 29, 2015 Category: Physiology Authors: Wei B, Wei H, Jin JP Tags: J Physiol Source Type: research
The Impact of Statins on Biological Characteristics of Stem Cells Provides a Novel Explanation for Their Pleotropic Beneficial and Adverse Clinical Effects.
Abstract
Statins reduce atherosclerotic events and cardiovascular mortality. Their side effects include memory loss, myopathy, cataract formation, and increased risk of diabetes. As cardiovascular mortality relates to plaque instability, which depends on the integrity of the fibrous cap, we hypothesize that the inhibition of the potential of Mesenchymal Stem Cells (MSCs) to differentiate into macrophages would help to explain the long known, but less understood "Non Lipid Associated" or pleiotropic benefit of statins on cardiovascular mortality. In the present investigation, MSCs were treated with atorvastatin or ...
Source: American Journal of Physiology. Cell Physiology - July 29, 2015 Category: Cytology Authors: Izadpanah R, Schächtele DJ, Pfnür AB, Lin D, Slakey DP, Kadowitz PJ, Alt EU Tags: Am J Physiol Cell Physiol Source Type: research
Dysferlin deficiency confers increased susceptibility to coxsackievirus‐induced cardiomyopathy
Abstract
Coxsackievirus infection can lead to viral myocarditis and its sequela, dilated cardiomyopathy, which represent major causes of cardiovascular mortality worldwide in children. Yet, the host genetic susceptible factors and the underlying mechanisms by which viral infection damages cardiac function remain to be fully resolved. Dysferlin is a transmembrane protein highly expressed in skeletal and cardiac muscles. In humans, mutations in the dysferlin gene can cause limb‐girdle muscular dystrophy type 2B and Miyoshi myopathy. Dysferlin‐deficiency has also been linked to cardiomyopathy. Defective muscle membrane re...
Source: Cellular Microbiology - June 16, 2015 Category: Microbiology Authors: Chen Wang, Jerry Wong, Gabriel Fung, Junyan Shi, Haoyu Deng, Jingchun Zhang, Pascal Bernatchez, Honglin Luo Tags: Breaking Report Source Type: research
Trans-splicing as a Therapeutic Approach for Dysferlin-deficient Muscular Dystrophies (P3.154)
CONCLUSIONS: Although the level of Dysferlin protein recovery obtained by SmaRT was moderate, weak 3’ splice sites were identified as the crucial qualities of successfully targeted dysferlin introns as well as one of the concordant qualities among successfully targeted introns in trans-splicing strategies for other diseases. Study Supported by: The German Research Foundation (DFG) and The French Muscular Dystrophy Association (AFM).Disclosure: Dr. Philippi has nothing to disclose. Dr. Lorain has nothing to disclose. Dr. Precigout has nothing to disclose. Dr. Spuler has nothing to disclose. Dr. Garcia has nothing to disclose.
Source: Neurology - April 8, 2015 Category: Neurology Authors: Philippi, S., Lorain, S., Precigout, G., Spuler, S., Garcia, L. Tags: Neuromuscular Disease: Therapeutics Source Type: research
