{"id":1124,"date":"2022-10-23T21:23:54","date_gmt":"2022-10-23T19:23:54","guid":{"rendered":"https:\/\/emanuelabottanilab.it\/progetti\/definizione-del-meccanismo-di-malattia-e-sperimentazione-di-nuovi-approcci-terapeutici-nelle-forme-da-difetto-della-proteina-nubpl\/"},"modified":"2025-11-18T21:05:10","modified_gmt":"2025-11-18T20:05:10","slug":"defining-disease-mechanisms-and-testing-novel-therapeutic-approaches-in-nubpl-protein-deficiency","status":"publish","type":"progetti","link":"https:\/\/emanuelabottanilab.it\/en\/projects\/defining-disease-mechanisms-and-testing-novel-therapeutic-approaches-in-nubpl-protein-deficiency\/","title":{"rendered":"Defining disease mechanisms and testing novel therapeutic approaches in NUBPL deficiency"},"content":{"rendered":"","protected":false},"template":"","meta":{"_gspb_post_css":""},"class_list":["post-1124","progetti","type-progetti","status-publish","hentry"],"blocksy_meta":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - 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Among these, NUBPL (nucleotide-binding protein like) has been identified as a critical factor in the correct assembly of Complex I subunits. Mutations in NUBPL lead to severe bioenergetic deficits associated with complex clinical phenotypes, including mitochondrial encephalopathy and multisystem involvement. Despite several clinical cases being reported, the molecular mechanisms through which NUBPL contributes to the formation and maintenance of Complex I remain incompletely defined, and no validated therapeutic options are currently available.<\/span> <span class=\"NormalTextRun SCXW98162802 BCX0\">Our laboratory aims to systematically define the pathogenic mechanisms associated with NUBPL defects and to develop innovative experimental platforms for the evaluation of potential therapeutic strategies. We employ advanced cellular models and three-dimensional neuronal differentiation systems to characterize the consequences of mutations on the development and function of the central nervous system. These models are also used as preclinical tools to test the efficacy of pharmacological and molecular approaches capable of improving mitochondrial function and supporting neuronal maturation. The long-term goal is to <\/span><span class=\"NormalTextRun SCXW98162802 BCX0\">identify<\/span><span class=\"NormalTextRun SCXW98162802 BCX0\"> concrete therapeutic targets and to develop innovative strategies that can be translated into treatment perspectives for patients with NUBPL deficiency and, more broadly, for disorders arising from Complex I dysfunction.<\/span><\/span><span class=\"EOP SCXW98162802 BCX0\" data-ccp-props=\"{&quot;335551550&quot;:6,&quot;335551620&quot;:6,&quot;335572079&quot;:12,&quot;335572080&quot;:1,&quot;335572081&quot;:4278190080,&quot;469789806&quot;:&quot;single&quot;}\">\u00a0<\/span><\/p>\n","coordinatore_progetto":"Emanuela Bottani","durata_progetto":"2021 \u2013 ongoing","ente_finanziatore_progetto":"","associazione_pazienti_progetto":"<p><a href=\"https:\/\/www.ammec.it\/\" target=\"_blank\" rel=\"noopener\"><span class=\"NormalTextRun SpellingErrorV2Themed SpellingErrorHighlight SCXW96130508 BCX0\" data-ccp-parastyle=\"Normal (Web)\">A.M.Me.C<\/span><span class=\"NormalTextRun SCXW96130508 BCX0\" data-ccp-parastyle=\"Normal (Web)\">.<\/span> <span class=\"NormalTextRun SCXW96130508 BCX0\" data-ccp-parastyle=\"Normal (Web)\">Associazione Malattie Metaboliche Congenite ODV<\/span><\/a><\/p>\n","linkesterni_progetti":""},"_links":{"self":[{"href":"https:\/\/emanuelabottanilab.it\/en\/wp-json\/wp\/v2\/progetti\/1124","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/emanuelabottanilab.it\/en\/wp-json\/wp\/v2\/progetti"}],"about":[{"href":"https:\/\/emanuelabottanilab.it\/en\/wp-json\/wp\/v2\/types\/progetti"}],"wp:attachment":[{"href":"https:\/\/emanuelabottanilab.it\/en\/wp-json\/wp\/v2\/media?parent=1124"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}