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[From gene to cell: Functional validation of RYR1 variants]. [从基因到细胞：RYR1 变体的功能验证]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024135
Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Marty
{"title":"[From gene to cell: Functional validation of RYR1 variants].","authors":"Robin Reynaud Dulaurier, Julie Brocard, John Rendu, Nagi Debbah, Julien Fauré, Isabelle Marty","doi":"10.1051/medsci/2024135","DOIUrl":"10.1051/medsci/2024135","url":null,"abstract":"<p><p>Genetic screening of rare diseases allows identification of the responsible gene(s) in about 50% of patients. The remaining cases are in a diagnostic deadlock as current knowledge fails to identify the correct gene or determine if the detected variant on the gene is pathogenic. These are named \"variants of unknown significance\" (VUS). In the case of neuromuscular diseases, the RYR1 gene is often implicated, with the majority of variants classified as VUS, requiring reliable classification to help patient diagnosis. Our project aims to create an efficient classification pipeline, integrating artificial intelligence, structural biology data, and functional analyses to enhance genetic diagnosis of RYR1-related diseases.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"30-33"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Wastes, a tool for perfect mutualism?] [废物，完美互助的工具？ ]
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-12-10 DOI: 10.1051/medsci/2024150
Marc-André Selosse
{"title":"[Wastes, a tool for perfect mutualism?]","authors":"Marc-André Selosse","doi":"10.1051/medsci/2024150","DOIUrl":"https://doi.org/10.1051/medsci/2024150","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"866-868"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency]. [酸性神经酰胺酶缺乏引起的溶酶体贮积症的治疗前景]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024162
Marion Derome, Jérôme Denard, Martina Marinello, Thierry Levade, Odile Boespflug-Tanguy, Ana Buj-Bello
{"title":"[Therapeutic perspectives for lysosomal storage disorders caused by acid ceramidase deficiency].","authors":"Marion Derome, Jérôme Denard, Martina Marinello, Thierry Levade, Odile Boespflug-Tanguy, Ana Buj-Bello","doi":"10.1051/medsci/2024162","DOIUrl":"10.1051/medsci/2024162","url":null,"abstract":"<p><p>Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy are two ultra-rare lysosomal storage disorders resulting from loss-of-function mutations in the ASAH1 gene encoding for acid ceramidase (ACDase). ACDase deficiency leads to the intracellular accumulation of ceramides with an inflammatory response in tissues. These two diseases manifest differently but are part of a clinical continuum with variable severity affecting the nervous system and/or peripheral tissues, including the neuromuscular system. To date, no specific or curative treatments are available for patients affected by acid ceramidase deficiency. Here, we summarize the clinical features, enzyme function, mouse models and therapeutic perspectives for these allelic diseases.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"52-55"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648607","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target]. [I 型肌营养不良症的代谢功能障碍：潜在的治疗目标]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024129
Lola Lessard, Laure Gallay, Rémi Mounier
{"title":"[Metabolic dysfunctions in type I myotonic dystrophy: A potential therapeutic target].","authors":"Lola Lessard, Laure Gallay, Rémi Mounier","doi":"10.1051/medsci/2024129","DOIUrl":"10.1051/medsci/2024129","url":null,"abstract":"<p><p>Myotonic dystrophy type I (DM1) is a genetic disease characterized by a multisystemic RNA metabolism dysregulation and splicing toxicity. Numerous signaling pathways are deregulated, and especially AMPK, a key sensor and regulator of cellular metabolism. To restore AMPK signaling activity in DM1 muscle tissue and cells could improve mitochondrial biogenesis and dynamics, mitophagy and oxidative stress, energy production and, in fine, skeletal muscle tissue homeostasis.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"40-44"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Jellyfish invasion on the coast of La Baule (MyoImage)]. [拉博勒海岸的水母入侵（MyoImage）]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024164
{"title":"[Jellyfish invasion on the coast of La Baule (MyoImage)].","authors":"","doi":"10.1051/medsci/2024164","DOIUrl":"https://doi.org/10.1051/medsci/2024164","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"45"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Human skeletal muscle ageing atlas]. [人类骨骼肌老化图集]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024160
Dounia Bouragba
{"title":"[Human skeletal muscle ageing atlas].","authors":"Dounia Bouragba","doi":"10.1051/medsci/2024160","DOIUrl":"https://doi.org/10.1051/medsci/2024160","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"76"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Inhibiting a kinase to stimulate liver regeneration]. [抑制一种激酶以刺激肝脏再生]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-12-10 DOI: 10.1051/medsci/2024140
Hélène Gilgenkrantz
{"title":"[Inhibiting a kinase to stimulate liver regeneration].","authors":"Hélène Gilgenkrantz","doi":"10.1051/medsci/2024140","DOIUrl":"https://doi.org/10.1051/medsci/2024140","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"807-809"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Laboratories directory: Mapping of the French neuromuscular research]. [实验室名录：法国神经肌肉研究地图]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024127
Gaëlle Kpalma, Gisèle Bonne, Tanya Stojkovic, Guilhem Solé, Jean-Philippe Camdessanché
{"title":"[Laboratories directory: Mapping of the French neuromuscular research].","authors":"Gaëlle Kpalma, Gisèle Bonne, Tanya Stojkovic, Guilhem Solé, Jean-Philippe Camdessanché","doi":"10.1051/medsci/2024127","DOIUrl":"https://doi.org/10.1051/medsci/2024127","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"74"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648508","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[Effects of physical exercise in muscular dystrophies]. [体育锻炼对肌肉萎缩症的影响]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-11-18 DOI: 10.1051/medsci/2024161
Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet
{"title":"[Effects of physical exercise in muscular dystrophies].","authors":"Alexis Boulinguiez, Dounia Bouragba, Barbara Crisol, Anne Bigot, Gillian Butler-Browne, Capucine Trollet","doi":"10.1051/medsci/2024161","DOIUrl":"10.1051/medsci/2024161","url":null,"abstract":"<p><p>Myopathies are a heterogeneous group of diseases characterized by progressive muscle weakness and degeneration. While muscle diseases have a major impact on patients' quality of life, a growing number of pre-clinical and clinical studies suggest that adapted physical exercise is beneficial in alleviating some symptoms and improving some functional parameters. This brief review of the literature discusses the current state of research about the effects of exercise in humans with various muscle diseases, exploring its impact on molecular mechanisms, muscle strength, endurance, function and the quality of life.</p>","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 Hors série n° 1 ","pages":"17-21"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
[An antiplasmid defense system favored the emergence of carbapenem-resistant Escherichia coli clones]. [抗质粒防御系统有利于耐碳青霉烯类大肠杆菌克隆的出现]。
IF 0.6 4区 医学
M S-medecine Sciences Pub Date : 2024-11-01 Epub Date: 2024-12-10 DOI: 10.1051/medsci/2024145
Pengdbamba Dieudonné Zongo, Philippe Glaser, Isabelle Rosinski-Chupin
{"title":"[An antiplasmid defense system favored the emergence of carbapenem-resistant Escherichia coli clones].","authors":"Pengdbamba Dieudonné Zongo, Philippe Glaser, Isabelle Rosinski-Chupin","doi":"10.1051/medsci/2024145","DOIUrl":"https://doi.org/10.1051/medsci/2024145","url":null,"abstract":"","PeriodicalId":18205,"journal":{"name":"M S-medecine Sciences","volume":"40 11","pages":"822-824"},"PeriodicalIF":0.6,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142829072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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