Alexander Disease Research Update - Episode #6 - silent mutations, case report, new rat model, mouse proteomics
Description
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]
United States
