{"id":15594,"date":"2021-10-16T16:56:13","date_gmt":"2021-10-16T20:56:13","guid":{"rendered":"https:\/\/arsacs.com\/?p=15594"},"modified":"2026-03-16T18:13:26","modified_gmt":"2026-03-16T22:13:26","slug":"dr-malteccas-arsacs-research-paper-published-in-neurology","status":"publish","type":"post","link":"https:\/\/arsacs.com\/fr\/dr-malteccas-arsacs-research-paper-published-in-neurology\/","title":{"rendered":"Dr. Maltecca&#8217;s ARSACS research paper published in Neurology"},"content":{"rendered":"<p class=\"wp-block-paragraph\">The research, funded by the Foundation and entitled <a href=\"https:\/\/n.neurology.org\/content\/early\/2021\/10\/14\/WNL.0000000000012962\" target=\"_blank\" rel=\"noopener\">\"Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis\u201d<\/a>, has been done by Fabiana Longo and the group headed by Francesca Maltecca at Ospedale San Raffaele, Milan, Italy.&nbsp;The study&nbsp;shows that sacsin is almost absent in a large set of ARSACS patient skin fibroblasts, regardless of the nature of the mutation. Nascent mutant sacsin undergoes preemptive cotranslational degradation, a mechanism that emerges as a novel cause of a human disease. These findings have important implication for diagnosis and genotype-phenotype correlation. We indeed propose that sacsin levels should be included in the diagnostic algorithm for ARSACS.<\/p>","protected":false},"excerpt":{"rendered":"<p>The research, funded by the Foundation and entitled &#8220;Assessment of sacsin turnover in ARSACS patients: implications for molecular diagnosis and pathogenesis\u201d, has been done by Fabiana Longo and the group headed by Francesca Maltecca at Ospedale San Raffaele, Milan, Italy.&nbsp;The study&nbsp;shows that sacsin is almost absent in a large set of ARSACS patient skin fibroblasts, [&#8230;]<\/p>\n","protected":false},"author":3,"featured_media":11103,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6],"tags":[],"class_list":["post-15594","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"_links":{"self":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/15594","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/comments?post=15594"}],"version-history":[{"count":3,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/15594\/revisions"}],"predecessor-version":[{"id":24736,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/posts\/15594\/revisions\/24736"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/media\/11103"}],"wp:attachment":[{"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/media?parent=15594"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/categories?post=15594"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/arsacs.com\/fr\/wp-json\/wp\/v2\/tags?post=15594"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}