Article
Geriatrics & Gerontology
Judith Canto-Santos, Laura Valls-Roca, Ester Tobias, Francesc Josep Garcia-Garcia, Mariona Guitart-Mampel, Anna Esteve-Codina, Beatriz Martin-Mur, Mercedes Casado, Rafael Artuch, Estel Solsona-Vilarrasa, Jose Carlos Fernandez-Checa, Carmen Garcia-Ruiz, Carles Rentero, Carlos Enrich, Pedro J. J. Moreno-Lozano, Jose Cesar Milisenda, Francesc Cardellach, Josep M. M. Grau-Junyent, Gloria Garrabou
Summary: In this study, molecular disturbances were found in fibroblast samples from IBM patients, including abnormal gene expression related to inflammation, mitochondria, and cell cycle regulation, as well as functional changes in inflammatory, autophagy, mitochondrial, and metabolic processes. These findings contribute to a better understanding of the pathogenesis of IBM and provide insights for the identification of new biomarkers and therapeutic strategies.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Clinical Neurology
Pannathat Soontrapa, Jennifer A. Tracy, Wilson I. Gonsalves, Teerin Liewluck
Summary: A case of monoclonal gammopathy-associated myopathy (MGAM) was reported in a patient with POEMS syndrome. This condition, along with other subtypes of MGAM, is treatable and should be recognized for proper diagnosis and treatment.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Cell Biology
Chintan K. Kikani
Summary: Tissue regeneration is a complex process that involves the coordination of cellular responses and stem cell fate. PASK, a sensory protein, plays a critical role in balancing self-renewal and differentiation programs during mammalian tissue regeneration.
Article
Oncology
E. C. de Heer, C. E. Zois, E. Bridges, B. van der Vegt, H. Sheldon, W. A. Veldman, M. C. Zwager, T. van der Sluis, S. Haider, T. Morita, O. Baba, C. P. Schroder, S. de Jong, A. L. Harris, M. Jalving
Summary: The study found that the gene GYS1 is related to tumor growth and therapy resistance in breast cancer, especially in triple-negative breast cancer. Inhibiting GYS1 weakens the proliferation ability of breast cancer cells and makes them more sensitive to inhibition of mitochondrial proteostasis.
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH
(2023)
Article
Nutrition & Dietetics
Lichao Yang, Xiaojing Cheng, Wei Shi, Hui Li, Qi Zhang, Shiping Huang, Xuejing Huang, Sha Wen, Ji Gan, Zhouxiang Liao, Junming Sun, Jinning Liang, Yiqiang Ouyang, Min He
Summary: This study established Vasn knockout mice and found that Vasn deficiency resulted in decreased body and liver weight, abnormal liver function, liver injury, and aberrant activation of hepatocyte autophagy. It was also observed that Vasn deletion upregulated hepatocyte autophagy through the mTOR-ULK1 signaling pathway. These findings provide new insight into the role of Vasn in liver functionality.
Article
Clinical Neurology
Silvia Nitschke, Mitchell A. Sullivan, Sharmistha Mitra, Charlotte R. Marchioni, Jennifer P. Y. Lee, Brandon H. Smith, Saija Ahonen, Jun Wu, Erin E. Chown, Peixiang Wang, Sara Petkovic, Xiaochu Zhao, Laura F. DiGiovanni, Ami M. Perri, Lori Israelian, Tamar R. Grossman, Holly Kordasiewicz, Francisco Vilaplana, Kazuhiro Iwai, Felix Nitschke, Berge A. Minassian
Summary: This study investigates the influence of glucan chain length on precipitation and the disease caused by abnormal glycogen structure. The authors found that the glycogen pathology of RBCK1 deficiency is similar to malin-deficient Lafora disease and can be rescued by downregulating glycogen synthase.
Review
Biochemistry & Molecular Biology
Danielle E. Levitt, Hui-Ying Luk, Jakob L. Vingren
Summary: Skeletal muscle mass is regulated by the balance between muscle protein synthesis (MPS) and degradation, which is controlled by intracellular signaling pathways like mTORC1. Alcohol use and resistance exercise (RE) can affect mTORC1 signaling, with acute alcohol impairing it and RE activating it. The effects of alcohol and RE on mTORC1 signaling are influenced by various factors, and there is a need for further research to fully understand their independent and combined impacts.
Article
Biochemistry & Molecular Biology
Lizhuo Wang, Cui Yu, Wenjun Pei, Mengya Geng, Yao Zhang, Zihui Li, Feiteng Liang, Fengbiao Tan, Hui Du, Jialin Gao
Summary: The study revealed that deletion of the Sidt2 gene disrupted the quality control of mitochondria, inhibited the clearance of mitochondria, resulting in the accumulation of damaged mitochondria, ultimately leading to the abnormal structure and function of skeletal muscle.
Article
Biology
Mikako Yagi, Yura Do, Haruka Hirai, Kenji Miki, Takahiro Toshima, Yukina Fukahori, Daiki Setoyama, Chiaki Abe, Yo-Ichi Nabeshima, Dongchon Kang, Takeshi Uchiumi
Summary: Myocardial mitochondria play a crucial role in myocardial energy metabolism. Mitochondrial disorders are associated with various cardiac diseases. In this study, NMN supplementation was found to improve lysosomal function, reduce heart failure, and extend the lifespan in mice with mitochondrial translation defects.
LIFE SCIENCE ALLIANCE
(2023)
Article
Biochemistry & Molecular Biology
Jinsheng Liu, Li Li, Ping Xie, Xiaoyan Zhao, Dongjing Shi, Yan Zhang, Chuxiong Pan, Tianzuo Li
Summary: Mitochondria damage and apoptosis are associated with sevoflurane induced neurotoxicity. This study found that sevoflurane induces neurotoxicity by activating a GSK3 beta/Drp1 dependent pathway, leading to mitochondrial fission and apoptosis.
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Fisheries
Xiaotong Sun, Hongtao Nie, Xiwu Yan
Summary: This study identified and investigated three novel glycogen metabolism-related proteins in Manila clam, suggesting their potential involvement in innate immunity and important role in immune defense.
Article
Neurosciences
Marisa A. Jeffries, Lauren E. McLane, Luipa Khandker, Marie L. Mather, Angelina V. Evangelou, Divyangi Kantak, Jennifer N. Bourne, Wendy B. Macklin, Teresa L. Wood
Summary: This study investigated the role of mTOR signaling in oligodendrocyte lineage during remyelination. The results showed that mTOR is required for metabolic function in cuprizone-demyelinated adult brain, influencing myelin production efficiency and myelin thickness during the repair process. Loss of mTOR in OPCs did not affect remyelination efficiency after other types of lesions, suggesting a specific function in cuprizone-induced demyelination.
JOURNAL OF NEUROSCIENCE
(2021)
Review
Biochemistry & Molecular Biology
Divya M. Teli, Anuradha K. Gajjar
Summary: Elevated glucose level due to β-cell dysfunction is a key marker of Type-II diabetes. GSK-3, an enzyme involved in glycogen metabolism control, has been explored for its potential as a target for diabetes treatment. This review article examines the structural analysis and molecular modeling of GSK-3, as well as advancements in the development of GSK-3 inhibitors as potential therapeutics for Type II diabetes.
BIOORGANIC & MEDICINAL CHEMISTRY
(2023)
Article
Rheumatology
Shiyi Yang, Cheng Luo, Wei Zheng, Xue Li, Xu Zhang, Ying Jiang, Fei Xiao
Summary: This study used DXA to evaluate the body composition and changes in patients with newly diagnosed idiopathic inflammatory myopathies. The results showed that DXA lean tissue mass (LTM) was significantly correlated with clinical parameters and could serve as a method for evaluating and monitoring the disease.
Article
Clinical Neurology
Kun Huang, Hui-Qian Duan, Qiu-Xiang Li, Yue-Bei Luo, Fang-Fang Bi, Huan Yang
Summary: This study expands the clinicogenotype and phenotype of GSD IXd in a Chinese population. The results also expand the known mutation spectrum for GSD IXd, contributing to a better characterization and understanding of this ultrarare neuromuscular disorder.
FRONTIERS IN NEUROLOGY
(2022)
Review
Neurosciences
Arnaud Jacquier, Simon Roubille, Patrick Lomonte, Laurent Schaeffer
Summary: This review provides a detailed analysis of the impact of MORC2 gene mutations on clinical manifestations, discussing possible genotype-phenotype correlations and intra and inter-family variability. It also reviews the molecular functions of MORC2 and its effects on the epigenetic landscape in the neuromuscular system, hypothesizing potential pathophysiological mechanisms underlying the observed phenotypic variability.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Article
Geriatrics & Gerontology
Agnes Martin, Josiane Castells, Valentine Allibert, Andrea Emerit, Cindy Zolotoff, Victoire Cardot-Ruffino, Yann S. Gallot, Barbara Vernus, Veronique Chauvet, Laurent Bartholin, Laurent Schaeffer, Anne-Cecile Durieux, Christophe Hourde, Francois B. Favier, Laetitia Mazelin, Damien Freyssenet
Summary: This study found that the hypothalamic-pituitary-adrenal-glucocorticoid pathway plays an important role in the transcriptional regulation of skeletal muscle catabolism and hepatic metabolism during cancer cachexia.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Clinical Neurology
Arnaud Jacquier, Valerie Risson, Thomas Simonet, Florine Roussange, Nicolas Lacoste, Shams Ribault, Julien Carras, Julian Theuriet, Emmanuelle Girard, Isabelle Grosjean, Laure Le Goff, Stephan Kroger, Julia Meltoranta, Stephanie Bauche, Damien Sternberg, Emmanuel Fournier, Anna Kostera-Pruszczyk, Emily O'Connor, Bruno Eymard, Hanns Lochmuller, Cecile Martinat, Laurent Schaeffer
Summary: This study identified mutations in the AGRN gene that lead to the accumulation of agrin in motoneurons and result in congenital myasthenic syndromes. Interestingly, mutant agrin is still able to trigger the formation of AChR clusters when secreted.
ACTA NEUROPATHOLOGICA
(2022)
Article
Clinical Neurology
Arnaud Jacquier, Julian Theuriet, Fanny Fontaine, Valentine Mosbach, Nicolas Lacoste, Shams Ribault, Valerie Risson, Julien Carras, Laurent Coudert, Thomas Simonet, Philippe Latour, Tanya Stojkovic, Juliette Piard, Anne Cosson, Gaetan Lesca, Francoise Bouhour, Stephane Allouche, Helene Puccio, Antoine Pegat, Laurent Schaeffer
Summary: Jacquier et al. identified a homozygous variant in the COQ7 gene in a family with distal hereditary motor neuropathy. This variant leads to a decrease in coenzyme Q10 production, causing impaired mitochondrial metabolism. Coenzyme Q10 supplementation may serve as a potential treatment for this disorder.
Editorial Material
Hematology
Hippolyte Lequain, Mathieu Gerfaud-Valentin, Jean-Francois Emile, Yann-Gael Gangloff, Guilaine Boursier, Christophe Deligny, Guillaume Le Guenno, Juliet Tantot, Julie Valantin, Lea Savey, Claude Bachmeyer, Yvan Jamilloux, Laurent Schaeffer, Pascal Leblanc, Pascal Seve
Article
Medicine, Research & Experimental
Alexis Osseni, Laurent Schaeffer
Summary: The cytoplasmic histone deacetylase 6 (HDAC6) has been identified as a key player in the treatment of various diseases. Overexpression of HDAC6 has been observed in many diseases, and selective inhibitors of HDAC6 activity have been synthesized and characterized. HDAC6 inhibitors have shown high efficiency and beneficial effects in cancers, neurodegenerative, inflammatory, and neuromuscular diseases. The role of HDAC6 in various pathologies, specifically in the regulation of the microtubule network and acetylcholine receptor delivery at neuromuscular junctions, is still not fully understood.
M S-MEDECINE SCIENCES
(2023)
Article
Nanoscience & Nanotechnology
Mathieu Repellin, Flavia Carton, Federico Boschi, Mirco Galie, Massimiliano Perduca, Laura Calderan, Arnaud Jacquier, Julien Carras, Laurent Schaeffer, Stephanie Briancon, Giovanna Lollo, Manuela Malatesta
Summary: In this study, hyaluronic acid-based nanoparticles were proposed as a novel encapsulation strategy to efficiently deliver pentamidine (PTM) to skeletal muscle cells and mitigate myotonic dystrophy type 1 (DM1) pathology. The nanoparticles demonstrated efficient internalization with minimal toxicity in vitro, and their therapeutic efficacy in reducing nuclear foci was demonstrated in a novel DM1 in vitro model.
NANOMEDICINE-NANOTECHNOLOGY BIOLOGY AND MEDICINE
(2023)
Editorial Material
Clinical Neurology
Juliette Svahn, Laurent Coudert, Nathalie Streichenberger, Alexandra Kraut, Alice Gravier-Dumonceau-Mazelier, Ludivine Rotard, Laurence Calemard-Michel, Rita Menassa, Elisabeth Errazuriz-Cerda, Lara Chalabreysse, Alexis Osseni, Christophe Vial, Laurentiu Jomir, Francois Tronc, Do Le Duy, Emilien Bernard, Vincent Gache, Yohann Coute, Vincent Jacquemond, Laurent Schaeffer, Pascal Leblanc
Summary: This study reports a case of acquired autoimmune rippling muscle disease (iRMD) associated with thymoma and AchR antibody negativity. The patient was found to have circulating MURC/Cavin-4 autoantibodies, and the histological features of the patient's muscles were similar to those commonly reported in caveolinopathies. After tumor resection and immunotherapy, the levels of autoantibodies significantly decreased, the rippling phenotype disappeared completely, and the patient achieved full remission. Therefore, MURC/Cavin-4 autoantibodies may play a pathogenic role in the development of paraneoplastic iRMD associated with thymoma.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Letter
Clinical Neurology
Arnaud Jacquier, Julian Theuriet, Shams Ribault, Nicolas Lacoste, Antoine Pegat, Philippe Latour, Laurent Schaeffer
Editorial Material
Cell Biology
Jie Chen
NATURE CELL BIOLOGY
(2023)
Article
Geriatrics & Gerontology
Jae-Sung You, Yongdeok Kim, Soohyun Lee, Rashid Bashir, Jie Chen
Summary: The RhoA/ROCK signaling pathway plays a critical role in the pathology of Duchenne muscular dystrophy (DMD), and inhibiting ROCK can improve muscle strength and quality in DMD by rescuing autophagy.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Correction
Clinical Neurology
Juliette Svahn, Laurent Coudert, Nathalie Streichenberger, Alexandra Kraut, Alice Gravier-Dumonceau-Mazelier, Ludivine Rotard, Laurence Calemard-Michel, Rita Menassa, Elisabeth Errazuriz-Cerda, Lara Chalabreysse, Alexis Osseni, Christophe Vial, Laurentiu Jomir, Francois Tronc, Do Le Duy, Emilien Bernard, Vincent Gache, Yohann Coute, Vincent Jacquemond, Laurent Schaeffer, Pascal Leblanc
Summary: This study reports a case of acquired autoimmune rippling muscle disease (iRMD) associated with thymoma and negative for AChR antibody. Circulating MURC/Cavin-4 autoantibodies were identified in the patient, and histologic features of the patient's muscle resembled those commonly reported in caveolinopathies. Interestingly, the titer of MURC/Cavin-4 autoantibodies decreased significantly after tumor resection and immunotherapy, leading to complete remission of the rippling phenotype.
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
(2023)
Meeting Abstract
Clinical Neurology
Arnaud Jacquier, Valerie Risson, Thomas Simomet, Florine Roussange, Shams Ribault, Julien Carras, Emmanuelle Girard, Isabelle Grosjean, Emily O'connor, Bruno Eymard, Anna Kostera-Pruszczyk, Emmanuel Fournier, Stephan Kroger, Damien Sternberg, Hanns Lochmuller, Cecile Martinat, Laurent Schaeffer
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Meeting Abstract
Clinical Neurology
Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valerie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj-Pakleza, Tanya Stojkovic, Laurent Schaeffer
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Article
Biology
Alexis Osseni, Jean-Luc Thomas, Alireza Ghasemizadeh, Laurent Schaeffer, Vincent Gache
Summary: An efficient communication between nerve and muscle at the neuromuscular junctions is essential for movement and breathing. Understanding the adaptation of the neuromuscular system to denervation is crucial for studying neuromuscular diseases. Currently, there is a lack of in vitro models that fully replicate the in vivo situation, making in vivo denervation an important method for studying adaptation to denervation.