Associated Papers
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.
Waldman AT et al.
Annals of Clinical and Translational Neurology, 2026
Experimental Approaches for Biochemical Analysis of Glial Fibrillary Acidic Protein and Its Disease-associated Variants.
Lin NH et al.
Journal of Visualized Experiments : Jove, 2025
Mutations in GFAP Alter Early Lineage Commitment of Organoids.
Dykstra W et al.
Glia, 2025
Self-silencing GFAP missense alleles in familial subclinical Alexander disease: implications for therapy.
Bachetti T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis.
Yousaf MA et al.
Gene, 2025
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
A systematic review and meta-analysis of GFAP gene variants in Alexander disease.
Grossi A et al.
Scientific Reports, 2024
Glial fibrillary acidic protein is pathologically modified in Alexander disease.
Lin NH et al.
The Journal of Biological Chemistry, 2024
Genotypic and phenotypic heterogeneity among Chinese pediatric genetic white matter disorders.
Dong L et al.
Italian Journal of Pediatrics, 2023
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Anis S et al.
Neurogenetics, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.
Heshmatzad K et al.
European Journal of Medical Research, 2022
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 novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes.
Kang YR et al.
European Journal of Human Genetics : Ejhg, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Alexander disease: models, mechanisms, and medicine.
Hagemann TL
Current Opinion in Neurobiology, 2022
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
Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.
Lanciotti A et al.
International Journal of Molecular Sciences, 2021
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.
Song X et al.
Molecular Medicine Reports, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
Candiani S et al.
Genes, 2020
Clinical characteristics of Alexander disease.
Yoshida T
Neurodegenerative Disease Management, 2020
N- and C-terminal regions of αB-crystallin and Hsp27 mediate inhibition of amyloid nucleation, fibril binding, and fibril disaggregation.
Selig EE et al.
The Journal of Biological Chemistry, 2020
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].
Matsuyama Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2020
Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.
de Waard DM et al.
Frontiers in Cellular Neuroscience, 2020
Refining the concept of GFAP toxicity in Alexander disease.
Messing A
Journal of Neurodevelopmental Disorders, 2019
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity.
Battaglia RA et al.
Elife, 2019
Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.
Heaven MR et al.
The Journal of Biological Chemistry, 2019
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
Yasuda R et al.
Scientific Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Neuropsychological features of adult form of Alexander disease.
Draghi L et al.
Journal of the Neurological Sciences, 2019
Aggregate formation analysis of GFAPR416W found in one case of Alexander disease.
Tulyeu J et al.
Brain & Development, 2019
Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes.
Jones JR et al.
Cell Reports, 2018
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease.
Green L et al.
Neuropediatrics, 2018
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease.
Moody LR et al.
The Journal of Biological Chemistry, 2017
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
Yoshida T et al.
European Neurology, 2017
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes.
Gómez-Pinedo U et al.
Frontiers in Neurology, 2017
The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.
Lin NH et al.
Molecular Biology of the Cell, 2016
Atypical MRI features in familial adult onset Alexander disease: case report.
Liu Y et al.
Bmc Neurology, 2016
Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease.
Heaven MR et al.
Journal of Proteome Research, 2016
Drosophila small heat shock protein CryAB ensures structural integrity of developing muscles, and proper muscle and heart performance.
Wójtowicz I et al.
Development (cambridge, England), 2015