Results 31 to 40 of about 31,110 (115)

Clinical and histopathological features of myofibrillar myopathy in Warmblood horses [PDF]

, 2017
BACKGROUND: To report a novel exertional myopathy, myofibrillar myopathy (MFM) in Warmblood (WB) horses. OBJECTIVES: To 1) describe the distinctive clinical and myopathic features of MFM in Warmblood horses and 2) investigate the potential inheritance of
Nicholson, AM, A. M. Nicholson, C. J. Finno, Valberg, SJ, Finno, CJ, S. J. Valberg, R. A. Reardon, S. S. Lewis, Reardon, RA, Lewis, SS   +9 more
core   +1 more source

Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders

Clinical Medicine Insights: Cardiology, 2016
Objectives Arrhythmogenic right ventricular dysplasia (ARVD) is a rare, genetic disorder predominantly affecting the right ventricle. There is increasing evidence that in some cases, ARVD is due to mutations in genes, which have also been implicated in ...
Josef Finsterer, Claudia Stöllberger
doaj   +1 more source

Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks

Nature Communications, 2018
BAG3 is a Hsp70 co-chaperone that is highly expressed in muscles. Here the authors show that several myofibrillar myopathy causing BAG3 mutations are not impaired in Hsp70 binding, but rather impair the ADP-ATP exchange step of the Hsp70 cycle, causing ...
Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga   +20 more
doaj   +1 more source

Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]

, 2009
Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel, Goldfarb, Lev, Lochmueller, Hanns, Walter, Maggie C., Chinnery, Patrick F., Reilich, Peter, McNeill, Alisdair, Schramm, Nicolai, Straub, Volker   +8 more
core   +1 more source

Loss of LCN2 Function Ameliorates Glucocorticoid‐Induced Muscle Atrophy via Remodeling the Extracellular Matrix

Advanced Science, EarlyView.
Glucocorticoids transcriptionally activate LCN2 expression via GR nuclear translocation. Secreted LCN2 binds MMP9 to degrade skeletal muscle ECM collagen, blocks integrin‐mediated mechanotransduction, bidirectionally disrupts muscle protein homeostasis, and reveals a novel target for steroid‐induced muscle atrophy.
Hongwei Shi, Xiaojing Hao, Yi Yan, Fengyang Li, Yaru Zhang, Zixin Li, Wenjuan Xie, Jiayin Lu, Xiaomao Luo, Yanjun Dong, Haidong Wang, Juan Wang   +11 more
wiley   +1 more source

DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION

Российский кардиологический журнал, 2017
Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods ...
R. P. Myasnikov, N. V. Shcherbakova, О. V. Kulikova, А. N. Meshkov, M. S. Kharlap, А. V. Kiseleva, А. А. Zharikova, Е. L. Dadali, N. A. Semenova, S. N. Koretsky, О. V. Blagova, Е. А. Mershina, V. Е. Sinitsyn, О. М. Drapkina, S. А. Boytsov   +14 more
doaj   +1 more source

Single‐Nucleus Atlas of Spinal Sarcopenia Patients Reveals Disruption of Quiescent and Regenerative Satellite Cell Niches in Fatty‐Infiltrated Muscle

Advanced Science, EarlyView.
Mechanisms of Fatty Infiltration and Muscle Degeneration. Clinical metadata identified intramuscular fat accumulation as an independent driver of muscle mass decline. Single‐nucleus RNA sequencing of spinal sarcopenia muscle revealed adipogenic reprogramming of fibro‐adipogenic progenitors, satellite‐cell niche disruption, and elevated levels of the ...
Wenkai Wu, Renxian Wang, Dingding Wang, Quanzhong Ren, Ling Wang, Fangfang Duan, Guihe Yang, Ruixuan Yu, Yi Wang, Yingyu Zhang, Zetong Zang, Chuqi Li, Weijia Liu, Wenshuang Zhang, Yi Yuan, Zitong Cheng, Xiaoguang Cheng, Junbo Liang, Yajun Liu   +18 more
wiley   +1 more source

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles [PDF]

, 2020
The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein.
Nolte, Kay, Elbracht, Miriam, Hitpass, L., Weis, J., Hitpass, Lea, Karason, Kristjan, Elbracht, M., Begemann, Matthias, Gotzl, R., Meyer, R., Hedberg-Oldfors, Carola, Begemann, M., Thuestad, Inger Johanne, Luna, Elizabeth J., Koschmieder, Steffen, Koschmieder, S., Gess, B., Oldfors, Anders,, Weis, Joachim, Lochmuller, H., Oldfors Hedberg, Carola,, Lindberg, Christopher, Visuttijai, Kittichate, Götzl, Rebekka, Geijer, Mats,, Karason, K., Gramlich, Michael, Nolte, K., Gess, Burkhard, Kurth, Ingo, Oldfors, Anders, Abdul Rahim, Yassir,, Kurth, I., Knopp, Cordula, Lausberg, E., Visuttijai, Kittichate,, Lindberg, C., Kraft, F., Gramlich, M., Kraft, Florian, Knopp, C., Luna, E. J., Lausberg, Eva, Abdul Rahim, Yassir, Meyer, Robert, Lochmüller, Hanns, Thuestad, I. J., Geijer, Mats   +47 more
core   +2 more sources

Single fibre cytoarchitecture in ventilator-induced diaphragm dysfunction (VIDD) assessed by quantitative morphometry second harmonic generation imaging: Positive effects of BGP-15 chaperone co-inducer and VBP-15 dissociative corticosteroid treatment

Frontiers in Physiology, 2023
Ventilator-induced diaphragm dysfunction (VIDD) is a common sequela of intensive care unit (ICU) treatment requiring mechanical ventilation (MV) and neuromuscular blockade (NMBA).
Sofia Mnuskina, Julian Bauer, Anette Wirth-Hücking, Dominik Schneidereit, Stefanie Nübler, Paul Ritter, Nicola Cacciani, Meishan Li, Lars Larsson, Lars Larsson, Lars Larsson, Oliver Friedrich, Oliver Friedrich, Oliver Friedrich   +13 more
doaj   +1 more source

Cytoskeleton–Membrane Uncoupling in Duchenne Muscular Dystrophy: Implications for Newborn Screening and Early Protection

Cytoskeleton, EarlyView.
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen, Nora Hosny, Brian R. Thompson, Joseph M. Metzger   +3 more
wiley   +1 more source