Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.S247P
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GFAP

NM_002055.5:p.S247P

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

Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis.

Heaven MR et al.

Molecular & Cellular Proteomics : Mcp, 2022

34808356 (PubMed )
Supplement: mmc7.xlsx › Sheet1

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

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.

Boczek NJ et al.

Clinical Case Reports, 2016

Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease.

Heaven MR et al.

Journal of Proteome Research, 2016

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

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."