{"id":15597,"date":"2021-10-19T13:28:11","date_gmt":"2021-10-19T17:28:11","guid":{"rendered":"https:\/\/arsacs.com\/?p=15597"},"modified":"2021-10-19T13:28:46","modified_gmt":"2021-10-19T17:28:46","slug":"recherche-du-dre-maltecca-publiee-dans-neurology","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/recherche-du-dre-maltecca-publiee-dans-neurology\/","title":{"rendered":"Recherche du Dre Maltecca publi\u00e9e dans Neurology"},"content":{"rendered":"\n<p> La recherche financ\u00e9e par la Fondation et intitul\u00e9e   <a href=\"https:\/\/n.neurology.org\/content\/early\/2021\/10\/14\/WNL.0000000000012962\">&#8220;Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis\u201d<\/a> a \u00e9t\u00e9 r\u00e9alis\u00e9e par Fabiana Longo et l\u2019\u00e9quipe de &nbsp;Francesca Maltecca \u00e0 Ospedale San Raffaele, Milan, Italie. L\u2019\u00e9tude montre que la sacsine est presque absente dans un grand nombre de fibroblastes cutan\u00e9s de patients atteints d\u2019ARSACS, quelle que soit la nature de la mutation.<\/p>\n\n\n\n<p>La prot\u00e9ine sacsin mutante subit une d\u00e9gradation pr\u00e9emptive lors de sa fabrication, ce m\u00e9canisme de contr\u00f4le \u00e9tant r\u00e9cemment d\u00e9crit comme un nouveau syst\u00e8me \u00e0 l\u2019origine des maladies humaines. Ces r\u00e9sultats ont une implication importante pour le diagnostic et l\u2019\u00e9tablissement de l\u2019association entre les mutations et signes cliniques<strong>.<\/strong> Par cons\u00e9quent, nous proposons que les niveaux de sacsine&nbsp;soient inclus dans l\u2019algorithme du diagnostic pour l&#8217;ARSACS.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La recherche financ\u00e9e par la Fondation et intitul\u00e9e &#8220;Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis\u201d a \u00e9t\u00e9 r\u00e9alis\u00e9e par Fabiana Longo et l\u2019\u00e9quipe de &nbsp;Francesca Maltecca \u00e0 Ospedale San Raffaele, Milan, Italie. L\u2019\u00e9tude montre que la sacsine est presque absente dans un grand nombre de fibroblastes cutan\u00e9s de patients [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":11104,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"categories":[28],"tags":[],"class_list":["post-15597","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-dernieres-nouvelles"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Recherche du Dre Maltecca publi\u00e9e dans Neurology - ARSACS<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/arsacs.com\/fr\/recherche-du-dre-maltecca-publiee-dans-neurology\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recherche du Dre Maltecca publi\u00e9e dans Neurology - ARSACS\" \/>\n<meta property=\"og:description\" content=\"La recherche financ\u00e9e par la Fondation et intitul\u00e9e &#8220;Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis\u201d a \u00e9t\u00e9 r\u00e9alis\u00e9e par Fabiana Longo et l\u2019\u00e9quipe de &nbsp;Francesca Maltecca \u00e0 Ospedale San Raffaele, Milan, Italie. L\u2019\u00e9tude montre que la sacsine est presque absente dans un grand nombre de fibroblastes cutan\u00e9s de patients [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/arsacs.com\/fr\/recherche-du-dre-maltecca-publiee-dans-neurology\/\" \/>\n<meta property=\"og:site_name\" content=\"ARSACS\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/profile.php?id=100044457429916\" \/>\n<meta property=\"article:published_time\" content=\"2021-10-19T17:28:11+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2021-10-19T17:28:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/arsacs.com\/wp-content\/uploads\/2021\/02\/DrFrancescaMaltecca-150x150-2.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"150\" \/>\n\t<meta property=\"og:image:height\" content=\"150\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"ARSACS\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"ARSACS\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/\"},\"author\":{\"name\":\"ARSACS\",\"@id\":\"https:\\\/\\\/arsacs.com\\\/#\\\/schema\\\/person\\\/93b66d6b897bfa131622d04b767b15f1\"},\"headline\":\"Recherche du Dre Maltecca publi\u00e9e dans Neurology\",\"datePublished\":\"2021-10-19T17:28:11+00:00\",\"dateModified\":\"2021-10-19T17:28:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/\"},\"wordCount\":160,\"publisher\":{\"@id\":\"https:\\\/\\\/arsacs.com\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/arsacs.com\\\/wp-content\\\/uploads\\\/2021\\\/02\\\/DrFrancescaMaltecca-150x150-2.jpg\",\"articleSection\":[\"Derni\u00e8res Nouvelles\"],\"inLanguage\":\"fr-FR\"},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/\",\"url\":\"https:\\\/\\\/arsacs.com\\\/fr\\\/recherche-du-dre-maltecca-publiee-dans-neurology\\\/\",\"name\":\"Recherche du Dre Maltecca publi\u00e9e dans Neurology - 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