Alexander Disease Research Update – Episode #27: Genotype-phenotype association for 14 GFAP variants

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Albee Messing, Mel Feany, and Natasha Snider discuss the following recent publication: 

Genotype-phenotype association for 14 GFAP variants in Alexander disease. 

Neurology: Genetics. 11, e200270 (2025) [full text]

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1.      Berman RF, Matson MR, Bachman AM, Lin N-H, Coyne S, Frelka A, et al. GFAP mutation and astrocyte dysfunction lead to a neurodegenerative profile with impaired synaptic plasticity and cognitive deficits in a rat model of Alexander disease. eNeuro:(in press) (2025)

PMID: 40064497

Isolation of Intermediate Filament Proteins from Multiple Mouse Tissues to Study Aging-associated Post-translational Modifications

J Vis Exp, 18, 55655 (2017)

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease

Cells, 12, 978 (2023)

A defined roadmap of radial glia and astrocyte differentiation from human pluripotent stem cells

Stem Cell Reports, 18, 1701-1720 (2023)