Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics
Manage episode 316658923 series 2952470
By Albee Messing. Discovered by Player FM and our community — copyright is owned by the publisher, not Player FM, and audio is streamed directly from their servers. Hit the Subscribe button to track updates in Player FM, or paste the feed URL into other podcast apps.
Albee Messing, Rachel Battaglia, and Peter Todd discuss the following recent publications:
But first, revisiting the issue of “silent” mutations.
[05:02] Xu, S.Y. et al. (2021). Type II Alexander disease with fragile X mental retardation 1 gene mutation. Clinical Neurology and Neurosurgery 211, 107023
[18:25] Hagemann, T.L. et al. (2021). Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment. Science Translational Medicine 13, eabg4711 (in press)
[38:44] Heaven, M.R. et al. (2021). Metabolic enzyme alterations and astrocyte dysfunction in a murine model of Alexander disease with severe reactive gliosis. Molecular and Cellular Proteomics 100180 (in press) [full text]
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