Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.L76V
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GFAP

NM_002055.5:p.L76V

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

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

Yang AW et al.

Molecular Biology of the Cell, 2022

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

Song X et al.

Molecular Medicine Reports, 2021

Elevated GFAP isoform expression promotes protein aggregation and compromises astrocyte function.

Lin NH et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.

Wada Y et al.

Journal of the Neurological Sciences, 2013

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T et al.

Journal of Neurology, 2011

An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.

Ohnari K et al.

Journal of Neurology, 2007

Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction.

Gorospe JR et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2006

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Li R et al.

Annals of Neurology, 2005

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