Title: Congruent gene expression in Alexander disease model mice and human Alzheimer’s disease Legend: (A) A Rank-Rank Hypergeometric Overlap (RRHO) heatmap comparing a composite gene expression portrait of human Alzheimer’s disease (AD, X axis) with …
Alexander disease
Tracy L. Hagemann, PhD – Slide of the Week
Alexander disease (AxD) is caused by mutations in the gene for glial fibrillary acidic protein (GFAP), an intermediate filament expressed by astrocytes in the central nervous system.
We need to know STAT: Mechanisms behind GFAP accumulation in Alexander disease involve transcription factor STAT3.
The hallmarks of Alexander disease, aggregation of misfolded GFAP proteins and dysregulation of brain cells called astrocytes, may be stopped and reversed in rodent models with the inactivation of the transcription factor STAT3.
Alexander disease: A lifetime’s work in the hope of saving lives
Messing wanted to study if the overexpression of GFAP resulted in a certain reactive response in the brain.
Tracy L. Hagemann, PhD – Slide of the Week
Anastasis is a recently described process in which cells recover after late-stage apoptosis activation. The functional consequences of anastasis for cells and tissues are not clearly understood.
Tracy Hagemann, PhD – Slide of the Week
Alexander disease (AxD) is a devastating leukodystrophy caused by gain-of-function mutations in GFAP, and the only available treatments are supportive. Recent advances in antisense oligonucleotide (ASO) therapy have demonstrated that transcript targeting can be a successful strategy for human neurodegenerative diseases amenable to this approach.
Promising treatment for Alexander disease moves from rat model to human clinical trials
Alexander disease is a progressive and rare neurological disorder with no cure or standard course of treatment. But a new study led by researchers at the University of Wisconsin–Madison involving a rat model of the disease offers a potential treatment for the typically fatal condition.
Tracy L. Hagemann, PhD – Slide of the Week
Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes. In AxD, mutant GFAP in combination with increased GFAP expression result in astrocyte dysfunction and the accumulation of Rosenthal fibers.
Tracy L. Hagemann, PhD & Albee Messing, VMD, PhD – Slide of the Week
Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein.
Albee Messing, VMD, PhD – Slide of the Week
Glial cells have increasingly been implicated as active participants in the pathogenesis of neurological diseases, but critical pathways and mechanisms controlling glial function and secondary non-cell autonomous neuronal injury remain incompletely defined.