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Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency

Summary: Haploinsufficiency of FBXO11, encoding a ubiquitin ligase complex subunit, is associated with a variable neurodevelopmental disorder. So far, the underlying nervous system-related pathomechanisms are poorly understood, and specific therapies are lacking. Using a combined approach, we establ...

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Autores principales: Anne Gregor, Laila Distel, Arif B. Ekici, Philipp Kirchner, Steffen Uebe, Mandy Krumbiegel, Soeren Turan, Beate Winner, Christiane Zweier
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2025-04-01
Colección:HGG Advances
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Acceso en línea:http://www.sciencedirect.com/science/article/pii/S2666247725000284
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