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Comment
. 2020 Nov 5;80(3):381-383.
doi: 10.1016/j.molcel.2020.10.002.

Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship

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Mitochondrial Dysfunction in Fragile-X Syndrome: Plugging the Leak May Save the Ship

Divakar S Mithal et al. Mol Cell. .
Free article

Abstract

Recent work by Licznerski et al. suggests that mutant FMRP linked to Fragile-X syndrome elevates the inner mitochondrial membrane proton leak, leading to increased metabolism and changes in protein synthesis that trigger impaired synaptic maturation and autistic behaviors.

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  • ATP Synthase c-Subunit Leak Causes Aberrant Cellular Metabolism in Fragile X Syndrome.
    Licznerski P, Park HA, Rolyan H, Chen R, Mnatsakanyan N, Miranda P, Graham M, Wu J, Cruz-Reyes N, Mehta N, Sohail S, Salcedo J, Song E, Effman C, Effman S, Brandao L, Xu GN, Braker A, Gribkoff VK, Levy RJ, Jonas EA. Licznerski P, et al. Cell. 2020 Sep 3;182(5):1170-1185.e9. doi: 10.1016/j.cell.2020.07.008. Epub 2020 Aug 13. Cell. 2020. PMID: 32795412 Free PMC article.

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