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Article Dans Une Revue International Journal of Molecular Sciences Année : 2019

Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome

Résumé

The mevalonate (MVA)/cholesterol pathway is crucial for central nervous system (CNS) development and function and consequently, any dysfunction of this fundamental metabolic pathway is likely to provoke pathologic changes in the brain. Mutations in genes directly involved in MVA/cholesterol metabolism cause a range of diseases, many of which present neurologic and psychiatric symptoms. This raises the question whether other diseases presenting similar symptoms are related albeit indirectly to the MVA/cholesterol pathway. Here, we summarized the current literature suggesting links between MVA/cholesterol dysregulation and specific diseases, namely autism spectrum disorder and Rett syndrome.
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Dates et versions

hal-02408639 , version 1 (19-11-2021)

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Marco Segatto, Claudia Tonini, Frank Pfrieger, Viviana Trezza, Valentina Pallottini. Loss of Mevalonate/Cholesterol Homeostasis in the Brain: A Focus on Autism Spectrum Disorder and Rett Syndrome. International Journal of Molecular Sciences, 2019, 20 (13), pp.3317. ⟨10.3390/ijms20133317⟩. ⟨hal-02408639⟩

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