Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.K63E
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GFAP

NM_002055.5:p.K63E

Associated Papers

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Lin NH et al.

The Journal of Biological Chemistry, 2024

Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains.

Shiohama T et al.

Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging, 2022

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.

Battaglia RA et al.

Elife, 2019

Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease.

Wang L et al.

Nature Communications, 2018

An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease.

Wang L et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

Nitric oxide mediates glial-induced neurodegeneration in Alexander disease.

Wang L et al.

Nature Communications, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."