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Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor
Manage episode 325496931 series 2952470
Kandungan disediakan oleh Albee Messing. Semua kandungan podcast termasuk episod, grafik dan perihalan podcast dimuat naik dan disediakan terus oleh Albee Messing atau rakan kongsi platform podcast mereka. Jika anda percaya seseorang menggunakan karya berhak cipta anda tanpa kebenaran anda, anda boleh mengikuti proses yang digariskan di sini https://ms.player.fm/legal.
Albee Messing, Mel Feany, Florian Eichler, and Ming der Perng discuss the following recent publications:
[02:21] Wang L et al. (2022) Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease.
Journal of Neuroscience (in press)
[reports interesting new mechanisms of astrocyte dysfunction]
[18:42] Kang YR et al. (2022). A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
European Journal of Human Genetics (in press)
[case report describing unusual variant and symptoms, podcast includes commentary on head trauma and psychiatry]
Send your questions and feedback to: axdrupodcast@waisman.wisc.edu
Help support research on Alexander Disease at the University of Wisconsin-Madison's Waisman Center:
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1. Alexander Disease Research Update - Episode #9: new mechanisms of astrocyte dysfunction, case report with novel variant, commentary on head trauma as an aggravating factor (00:00:00)
2. Anastasis drives senescence and non-cell autonomous neurodegeneration in the astrogliopathy Alexander disease (00:02:21)
3. A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes (00:18:42)
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