ArticleHuman mutation2012
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
- Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations.Cureus · 2025Article
- Deletions in Glial Fibrillary Acidic Protein Leading to Alterations in Intermediate Filament Assembly and Network Formation.International journal of molecular sciences · 2025Article
- Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing.European journal of medical research · 2022Review
- Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.Molecular biology of the cell · 2022Article
- Alexander disease: models, mechanisms, and medicine.Current opinion in neurobiology · 2022Review
- Activation of a Cryptic Splice Site ofNeurology. Genetics · 2021Article
- Does genetic anticipation occur in familial Alexander disease?Neurogenetics · 2021Article
- Parental Somatic Mosaicism Uncovers Inheritance of an ApparentlyFrontiers in genetics · 2021Article
- Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.Human mutation · 2020Article
- Refining the concept of GFAP toxicity in Alexander disease.Journal of neurodevelopmental disorders · 2019Review
- Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease.The Journal of biological chemistry · 2019Article
- Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.Cold Spring Harbor perspectives in biology · 2017Review
- Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes.Frontiers in neurology · 2017Article
- The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP.Molecular biology of the cell · 2016Article
- Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease.Journal of proteome research · 2016Article
- Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature.BMC veterinary research · 2015Review
- A new mutation in GFAP widens the spectrum of Alexander disease.European journal of human genetics : EJHG · 2015Article
- Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.European journal of human genetics : EJHG · 2015Article
- Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.Orphanet journal of rare diseases · 2013Article
- Review
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Authors and funding
13 authors at 10 institutions in 2 countries.
Funding
Abstract
Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique characteristics, and whose mutations have implications for AxD diagnosis and studies of intermediate filaments. Patient 1 is the first reported case with a noncoding mutation. The patient has a splice site change producing an in-frame deletion of exon 4 in about 10% of the transcripts. Patient 2 has an insertion and deletion at the extreme end of the coding region, resulting in a short frameshift. In addition, the mutation was found in buccal DNA but not in blood DNA, making this patient the first reported chimera. Patient 3 has a single-base deletion near the C-terminal end of the protein, producing a short frameshift. These findings recommend inclusion of intronic splice site regions in genetic testing for AxD, indicate that alteration of only a small fraction of GFAP can produce disease, and provide caution against tagging intermediate filaments at their C-terminal end for cell biological investigations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.