ArticlebioRxiv : the preprint server for biology2025
Progressive neuroinflammation and deficits in motor function in a mouse model with an
Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Vici syndrome (VS) is a rare pediatric genetic disorder characterized by profound developmental delay, seizures, immune deficits, cardiomyopathy, and progressive motor dysfunction, with a median survival of approximately 42 months. This devastating condition is caused by pathogenic variants in the Methods: We report the generation and analysis of novel genetically engineered mouse models of VS, including a strain harboring a truncating mutation that recapitulates a pathogenic variant identified in a VS patient and a strain with an Results: These novel Conclusions: The analysis of these novel mouse models of Vici syndrome suggest a critical role for neuroglial activation in the pathogenesis of VS. These novel in vivo models will be a valuable platform for preclinical evaluation of therapeutic strategies targeting autophagy-related neurodegeneration in congenital disorders of autophagy.
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