{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T05:19:27Z","timestamp":1731993567254,"version":"3.28.0"},"reference-count":24,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T00:00:00Z","timestamp":1731888000000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>La maladie de Farber et l\u2019amyotrophie spinale avec \u00e9pilepsie myoclonique progressive sont deux maladies de surcharge lysosomale ultra-rares, li\u00e9es \u00e0 des mutations du g\u00e8ne <jats:italic>ASAH1<\/jats:italic> codant la c\u00e9ramidase acide (ACDase). Le d\u00e9ficit en ACDase conduit \u00e0 une accumulation intracellulaire de c\u00e9ramides associ\u00e9e \u00e0 une r\u00e9ponse inflammatoire tissulaire. Ces deux maladies se manifestent de mani\u00e8re diff\u00e9rente, mais font partie d\u2019un continuum clinique de s\u00e9v\u00e9rit\u00e9 variable touchant le syst\u00e8me nerveux et\/ou les tissus p\u00e9riph\u00e9riques, y compris le syst\u00e8me neuromusculaire. \u00c0 ce jour, il n\u2019y a pas de traitement sp\u00e9cifique ou curatif disponible pour les patients atteints du d\u00e9ficit en ACDase. Ici, nous r\u00e9sumons les caract\u00e9ristiques cliniques, la fonction de l\u2019enzyme, les mod\u00e8les murins et les perspectives th\u00e9rapeutiques pour ces maladies.<\/jats:p>","DOI":"10.1051\/medsci\/2024162","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T08:51:13Z","timestamp":1731919873000},"page":"52-55","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 1","title":["Perspectives th\u00e9rapeutiques pour les maladies lysosomales dues au d\u00e9ficit en c\u00e9ramidase acide"],"prefix":"10.1051","volume":"40","author":[{"given":"Marion","family":"Derome","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e9r\u00f4me","family":"Denard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Marinello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry","family":"Levade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Odile","family":"Boespflug-Tanguy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Buj-Bello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2024,11,18]]},"reference":[{"issue":"51","key":"R1","doi-asserted-by":"crossref","first-page":"33110","DOI":"10.1074\/jbc.271.51.33110","volume":"271","author":"Koch","year":"1996","journal-title":"J Biol Chem"},{"issue":"3","key":"R2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ana.410060309","volume":"6","author":"Jankovic","year":"1979","journal-title":"Ann Neurol"},{"issue":"1","key":"R3","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2012.05.001","volume":"91","author":"Zhou","year":"2012","journal-title":"Am J Hum Genet"},{"key":"R4","doi-asserted-by":"crossref","unstructured":"Yu FPS, Amintas S, Levade T, et al. 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