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6 Results Found

  • Article
  • Open Access
694 Views
23 Pages

Alexander disease (AxD) is a rare and fatal neurodegenerative disorder caused by dominant mutations in the gfap gene, which encodes glial fibrillary acidic protein (GFAP), a major intermediate filament in astrocytes. As a primary astrogliopathy, AxD...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Article
  • Open Access
2,660 Views
14 Pages

Establishment and Use of Primary Cultured Astrocytes from Alexander Disease Model Mice

  • Yuto Kubota,
  • Eiji Shigetomi,
  • Kozo Saito,
  • Youichi Shinozaki,
  • Kenji Kobayashi,
  • Masayoshi Tanaka,
  • Bijay Parajuli,
  • Kenji F. Tanaka and
  • Schuichi Koizumi

11 November 2024

Alexander disease (AxD) is an intractable neurodegenerative disease caused by mutations in glial fibrillary acidic protein (GFAP), which is predominantly expressed in astrocytes. Thus, AxD is a primary astrocyte disease. However, it remains unclear h...

(This article belongs to the Special Issue Molecular Research on Neurodegenerative Diseases 4.0)
  • Article
  • Open Access
21 Citations
5,709 Views
19 Pages

STAT3 Drives GFAP Accumulation and Astrocyte Pathology in a Mouse Model of Alexander Disease

  • Tracy L. Hagemann,
  • Sierra Coyne,
  • Alder Levin,
  • Liqun Wang,
  • Mel B. Feany and
  • Albee Messing

23 March 2023

Alexander disease (AxD) is caused by mutations in the gene for glial fibrillary acidic protein (GFAP), an intermediate filament expressed by astrocytes in the central nervous system. AxD-associated mutations cause GFAP aggregation and astrogliosis, a...

(This article belongs to the Special Issue Astrocytes in CNS Disorders)
  • Article
  • Open Access
10 Citations
5,455 Views
19 Pages

Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening

  • Simona Candiani,
  • Silvia Carestiato,
  • Andreas F. Mack,
  • Daniele Bani,
  • Matteo Bozzo,
  • Valentina Obino,
  • Michela Ori,
  • Francesca Rosamilia,
  • Miriam De Sarlo and
  • Tiziana Bachetti
  • + 2 authors

11 December 2020

Alexander disease (AxD) is a rare astrogliopathy caused by heterozygous mutations, either inherited or arising de novo, on the glial fibrillary acid protein (GFAP) gene (17q21). Mutations in the GFAP gene make the protein prone to forming aggregates...

(This article belongs to the Special Issue Zebrafish Animal Models)
  • Article
  • Open Access
3 Citations
2,340 Views
15 Pages

Evaluation of the Effect of Optic Nerve Compression by Craniopharyngioma on Retinal Nerve Fiber Layer Thickness in Pediatric Patients

  • Klaudia Rakusiewicz-Krasnodębska,
  • Agnieszka Bogusz-Wójcik,
  • Elżbieta Moszczyńska,
  • Maciej Jaworski,
  • Paweł Kowalczyk and
  • Wojciech Hautz

5 August 2025

Purpose: The present study aims to evaluate alterations in the peripapillary retinal nerve fiber layer (RNFL) thickness in pediatric patients following surgical resection of childhood-onset craniopharyngioma (CP) and to identify tumor characteristics...

(This article belongs to the Section Pediatric Oncology)
  • Review
  • Open Access
10 Citations
4,569 Views
10 Pages

Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases

  • Schuichi Koizumi,
  • Eiji Shigetomi,
  • Fumikazu Sano,
  • Kozo Saito,
  • Sun Kwang Kim and
  • Junichi Nabekura

23 December 2021

In pathological brain conditions, glial cells become reactive and show a variety of responses. We examined Ca2+ signals in pathological brains and found that reactive astrocytes share abnormal Ca2+ signals, even in different types of diseases. In a n...

(This article belongs to the Special Issue Astrocytes: Emerging Roles in the Pathogenesis and Treatment of CNS Disorders 2.0)