Associated Papers
Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.
Zhang J et al.
Pediatric Neurology, 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
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes.
Bachetti T et al.
Molecular Genetics and Metabolism, 2026
Linking Cell Architecture to Mitochondrial Signaling in Neurodegeneration: The Role of Intermediate Filaments.
Marzetti E et al.
International Journal of Molecular Sciences, 2025
Consequences of plectin ablation on the various intermediate filament systems in skeletal muscle.
Rocha M et al.
European Journal of Cell Biology, 2025
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
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 multi-omics approach reveals impaired lipid metabolism and oxidative stress in a zebrafish model of Alexander disease.
Bellitto D et al.
Redox Biology, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Aberrant neurodevelopment in human iPS cell-derived models of Alexander disease.
Matusova Z et al.
Glia, 2025
Morphological Characteristics and Extracellular Matrix Abnormalities in Astrocytes Derived From iPSCs of Children With Alexander Disease.
Yi H et al.
Cns Neuroscience & Therapeutics, 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
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease.
Joung J et al.
Journal of Child Neurology, 2023
Alexander disease: the road ahead.
Pajares MA et al.
Neural Regeneration Research, 2023
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
GFAP serves as a structural element of tunneling nanotubes between glioblastoma cells and could play a role in the intercellular transfer of mitochondria.
Simone L et al.
Frontiers in Cell and Developmental Biology, 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
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
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
Palato-Lingual Tremor in a Child With Juvenile-Onset Alexander Disease.
Almudhry M et al.
Pediatric Neurology, 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
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant.
Heshmatzad K et al.
Clinical Neurology and Neurosurgery, 2021
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease.
Bachetti T et al.
Frontiers in Pharmacology, 2021
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
Grossi A et al.
Frontiers in Genetics, 2021
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening.
Candiani S et al.
Genes, 2020
Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years.
Tsuji M et al.
Neuropediatrics, 2020
Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies.
de Waard DM et al.
Frontiers in Cellular Neuroscience, 2020
A novel mutation in the GFAP gene expands the phenotype of Alexander disease.
Casasnovas C et al.
Journal of Medical Genetics, 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
Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study.
Cabrera-Galván JJ et al.
Histology and Histopathology, 2019
Modeling Neurological Disorders with Human Pluripotent Stem Cell-Derived Astrocytes.
Suga M et al.
International Journal of Molecular Sciences, 2019
Progressive Head Enlargement in a Child With Motor Delay.
Sharawat IK et al.
Pediatric Neurology, 2019
Mitochondria Are Dynamically Transferring Between Human Neural Cells and Alexander Disease-Associated GFAP Mutations Impair the Astrocytic Transfer.
Gao L et al.
Frontiers in Cellular Neuroscience, 2019
A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease.
Ciammola A et al.
Frontiers in Neurology, 2019