Cargando…

Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease

Alexander’s disease (AxD) is a rare, usually relentlessly progressive disorder of astroglial cells in the central nervous system related to mutations in the gene encoding the type III intermediate filament protein, glial fibrillary acidic protein (GFAP). The pathophysiology of AxD is only partially...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bachetti, Tiziana, Zanni, Eleonora Di, Adamo, Annalisa, Rosamilia, Francesca, Sechi, M. Margherita, Solla, Paolo, Bozzo, Matteo, Ceccherini, Isabella, Sechi, GianPietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8688807/ https://www.ncbi.nlm.nih.gov/pubmed/34950024 http://dx.doi.org/10.3389/fphar.2021.723218

Ejemplares similares

A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease
por: Ciammola, Andrea, et al.
Publicado: (2019)

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
por: Grossi, Alice, et al.
Publicado: (2021)

Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation
por: Grossi, Alice, et al.
Publicado: (2022)

CSF and Blood Levels of GFAP in Alexander Disease
por: Jany, Paige L., et al.
Publicado: (2015)

Refining the concept of GFAP toxicity in Alexander disease
por: Messing, Albee
Publicado: (2019)

GFAP expression as an indicator of disease severity in mouse models of Alexander disease
por: Jany, Paige L., et al.
Publicado: (2013)

A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene
por: Zaver, Dhillon B., et al.
Publicado: (2019)

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease
por: Pinto e Vairo, Filippo, et al.
Publicado: (2018)

Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene
por: Goerttler, Tsepo, et al.
Publicado: (2022)

Effects of Alexander disease–associated mutations on the assembly and organization of GFAP intermediate filaments
por: Yang, Ai-Wen, et al.
Publicado: (2022)

Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening
por: Candiani, Simona, et al.
Publicado: (2020)

GFAP at 50
por: Messing, Albee, et al.
Publicado: (2020)

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant
por: Melchionda, Laura, et al.
Publicado: (2013)

A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction
por: Nam, Tai-Seung, et al.
Publicado: (2017)

Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model
por: Lee, So-Hyun, et al.
Publicado: (2017)

Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity
por: Battaglia, Rachel A, et al.
Publicado: (2019)

Regulation of GFAP Expression
por: Brenner, Michael, et al.
Publicado: (2021)

Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease
por: Amano, Eiichiro, et al.
Publicado: (2021)

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease
por: Hagemann, Tracy L., et al.
Publicado: (2023)

GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.
por: Takeuchi, Hirokazu, et al.
Publicado: (2021)

A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
por: Yasuda, Rei, et al.
Publicado: (2017)

GFAP expression in injured astrocytes in rats
por: Zhang, Shuquan, et al.
Publicado: (2017)

Serological biomarkers in autoimmune GFAP astrocytopathy
por: Fu, Cong-Cong, et al.
Publicado: (2022)

GFAPδ/GFAPα ratio directs astrocytoma gene expression towards a more malignant profile
por: Stassen, Oscar M.J.A., et al.
Publicado: (2017)

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
por: Boczek, Nicole J., et al.
Publicado: (2016)

Mitochondria Are Dynamically Transferring Between Human Neural Cells and Alexander Disease-Associated GFAP Mutations Impair the Astrocytic Transfer
por: Gao, Longfei, et al.
Publicado: (2019)

Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing
por: Heshmatzad, Katayoun, et al.
Publicado: (2022)

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
por: Di Lascio, Simona, et al.
Publicado: (2017)

Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress
por: Viedma-Poyatos, Álvaro, et al.
Publicado: (2022)

Asymmetric Distribution of GFAP in Glioma Multipotent Cells
por: Guichet, Pierre-Olivier, et al.
Publicado: (2016)

Importance of GFAP isoform‐specific analyses in astrocytoma
por: van Bodegraven, Emma J., et al.
Publicado: (2019)

Beyond the GFAP-Astrocyte Protein Markers in the Brain
por: Jurga, Agnieszka M., et al.
Publicado: (2021)

GFAP-Negative Subcutaneous Sacrococcygeal Extraspinal Ependymoma
por: Goto, Kazuya, et al.
Publicado: (2021)

Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene
por: Chang, Ki-Eun, et al.
Publicado: (2015)

Case Report: Need for Caution in the Diagnosis of GFAP Astrocytopathy—A Case of GFAP Astrocytopathy Coexistent With Primary Central Nervous System Lymphoma
por: Fang, Jia, et al.
Publicado: (2022)

Anorexia Reduces GFAP+ Cell Density in the Rat Hippocampus
por: Reyes-Haro, Daniel, et al.
Publicado: (2016)

GFAP positivity in neurons following traumatic brain injuries
por: Zwirner, Johann, et al.
Publicado: (2021)

Characteristics of Movement Disorders in Patients with Autoimmune GFAP Astrocytopathy
por: Kimura, Akio, et al.
Publicado: (2022)

Rapidly progressive dementia: Extending the spectrum of GFAP‐astrocytopathies?
por: Friedrich, Maximilian, et al.
Publicado: (2022)

Effects of Carbamazepine and Phenytoin on Pharmacokinetics and Pharmacodynamics of Rivaroxaban
por: Ngo, Lien Thi, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_87h9r6tv2l2mufhc14lj38qhaf