Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.D417A
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GFAP

NM_002055.5:p.D417A

Associated Papers

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Lin NH et al.

The Journal of Biological Chemistry, 2024

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

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

Battaglia RA et al.

Elife, 2019

Alexander disease.

Messing A

Handbook of Clinical Neurology, 2018

Characterization of a panel of monoclonal antibodies recognizing specific epitopes on GFAP.

Lin NH et al.

Plos One, 2017

Astrocytic TDP-43 pathology in Alexander disease.

Walker AK et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Archetypal and new families with Alexander disease and novel mutations in GFAP.

Messing A et al.

Archives of Neurology, 2012

Genetic ablation of Nrf2/antioxidant response pathway in Alexander disease mice reduces hippocampal gliosis but does not impact survival.

Hagemann TL et al.

Plos One, 2012

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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."