Associated Papers
Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.
Zhang J et al.
Pediatric Neurology, 2026
Mutant glial fibrillary acidic protein reduces the capacity for glutamate uptake in hippocampal astrocytes.
Yamazaki Y et al.
Neuroscience Letters, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease.
Waldman AT et al.
Annals of Clinical and Translational Neurology, 2026
Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease.
Hagemann TL et al.
Annals of Clinical and Translational Neurology, 2026
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants.
Suthar R et al.
Brain & Development, 2025
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
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genotype-Phenotype Association for 14 GFAP Variants in Alexander Disease.
Messing A et al.
Neurology. Genetics, 2025
Response to amoxicillin and perampanel in infantile Alexander disease.
Boronat S et al.
Epilepsia Open, 2024
Establishment and Use of Primary Cultured Astrocytes from Alexander Disease Model Mice.
Kubota Y et al.
International Journal of Molecular Sciences, 2024
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
Microglia sense astrocyte dysfunction and prevent disease progression in an Alexander disease model.
Saito K et al.
Brain : a Journal of Neurology, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
Astrocyte contribution to dysfunction, risk and progression in neurodegenerative disorders.
Brandebura AN et al.
Nature Reviews. Neuroscience, 2023
Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress.
Viedma-Poyatos Á et al.
Redox Biology, 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
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
Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment.
Hagemann TL et al.
Science Translational Medicine, 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
Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.
Zhang W et al.
Frontiers in Chemistry, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
Parayil Sankaran B et al.
Journal of Child Neurology, 2020
Refining the concept of GFAP toxicity in Alexander disease.
Messing A
Journal of Neurodevelopmental Disorders, 2019
Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia.
Paprocka J et al.
Balkan Journal of Medical Genetics : Bjmg, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease.
Wang L et al.
Nature Communications, 2018
Aberrant astrocyte Ca2+ signals "AxCa signals" exacerbate pathological alterations in an Alexander disease model.
Saito K et al.
Glia, 2018
Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis.
Brackmann F et al.
Brain & Development, 2018
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
Lee SH et al.
Bmc Neurology, 2017
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease.
Sosunov AA et al.
Acta Neuropathologica Communications, 2017
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2017
Characterization of a panel of monoclonal antibodies recognizing specific epitopes on GFAP.
Lin NH et al.
Plos One, 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
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
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever.
Van Poucke M et al.
European Journal of Human Genetics : Ejhg, 2016