Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
1 recherche sur le mot-clé 'Cell model'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? / Karina A. KRUTH in Molecular Autism, 11 (2020)
[article]
Titre : SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? Type de document : Texte imprimé et/ou numérique Auteurs : Karina A. KRUTH, Auteur ; Tierney M. GRISOLANO, Auteur ; Christopher A. AHERN, Auteur ; Aislinn J. WILLIAMS, Auteur Article en page(s) : 23 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Cell model Induced pluripotent stem cell NaV1.2 Organoid scn2a SCN2A syndrome Sodium channel Index. décimale : PER Périodiques Résumé : Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers' attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel Na(V)1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism. En ligne : http://dx.doi.org/10.1186/s13229-020-00330-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 23 p.[article] SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? [Texte imprimé et/ou numérique] / Karina A. KRUTH, Auteur ; Tierney M. GRISOLANO, Auteur ; Christopher A. AHERN, Auteur ; Aislinn J. WILLIAMS, Auteur . - 23 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 23 p.
Mots-clés : Autism spectrum disorder Cell model Induced pluripotent stem cell NaV1.2 Organoid scn2a SCN2A syndrome Sodium channel Index. décimale : PER Périodiques Résumé : Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers' attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel Na(V)1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism. En ligne : http://dx.doi.org/10.1186/s13229-020-00330-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427