|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein.
|
31455510 |
2020 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, our study suggested that mitochondria dynamically transferred between neural cells and revealed that AxD-associated mutations in GFAP gene disrupted the astrocytic transfer, providing a potential pathogenic mechanism in AxD.
|
31327963 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patient was diagnosed with AxD after direct sequencing revealing a de novo recurrent mutation, c.1246C>T (p.R416W) in GFAP.
|
30213442 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study.
|
30942895 |
2019 |
|
Alexander Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Refining the concept of GFAP toxicity in Alexander disease.
|
31838996 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alexander disease (AxD) is an extremely rare neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations.
|
31611638 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reveal a novel PTM signature linking different GFAP mutations in infantile AxD.
|
31682229 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease.
|
30048824 |
2019 |
|
Alexander Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This finding suggests that AxD onset is due to an intrinsic toxicity of the mutant GFAP instead of it acting indirectly by being more stable than WT GFAP and thereby increasing the total GFAP level.
|
31484723 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alexander disease (AxD) is a leukodystrophy, described in infantile, juvenile and adult onset forms, due to mutations in the glial fibrillary acid protein (GFAP) gene.
|
30755139 |
2019 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Infantile Alexander disease is a rare progressive leukodystrophy caused by autosomal dominant mutations in the (GFAP) gene typically presenting with psychomotor retardation, progressive macrocephaly and refractory epilepsy.
|
29191363 |
2018 |
|
Alexander Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Transcriptome analysis of astrocytes from a model of AxD showed age-dependent upregulation of GFAP, several markers for neurotoxic reactive astrocytes, and downregulation of Ca<sup>2+</sup> homeostasis molecules.
|
29383757 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alexander disease (AxD) is a progressive neurodegenerative disease caused by a mutation in the glial fibrillary acid protein (GFAP) gene.
|
29573842 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP.
|
28342553 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, patients with biopsy-proven AD have been reported in whom no <i>GFAP</i> mutation has been identified.
|
29253910 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alexander Disease (AxD) is a degenerative disorder caused by mutations in the GFAP gene, which encodes the major intermediate filament of astrocytes.
|
29740945 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mapping of the GFAP mutations associated with Alexander disease reveals that most involve residues buried in the core of the interface, and are likely to disrupt the intermolecular interactions and/or introduce steric clashes, thereby decreasing GFAP solubility and promoting aggregation.
|
30126635 |
2018 |
|
Alexander Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we show that AxD patient iPSC-derived astrocytes recapitulate key features of AxD pathology such as GFAP aggregation.
|
30075130 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we use GFAP mutant mouse models of Alexander disease to test the efficacy of antisense suppression and evaluate the effects on molecular and cellular phenotypes and non-cell-autonomous toxicity.
|
29226998 |
2018 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results reveal that AxD-causing mutations in GFAP disrupt intracellular vesicle regulation and impair astrocyte secretion, resulting in astrocyte dysfunction and AxD pathogenesis.
|
30355500 |
2018 |
|
Alexander Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our findings seem to suggest that the mechanism of development of AxD may not be due to a function gain due to increase of GFAP, but to failure in the differentiation process may occur at the stage in which precursor cells transform into oligodendrocytes, and that possibility may provide the best explanation for the clinical and radiological images described in AxD.
|
28634469 |
2017 |
|
Alexander Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that GFAP expression is not the only factor associated with cell death in Alexander disease.
|
29249301 |
2017 |
|
Alexander Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alexander disease is a rare neurodegenerative disease caused by variants in the glial fibrillary acidic protein gene (GFAP).
|
29095329 |
2017 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have been studying the astrocytes of Alexander disease (AxD), which is caused by heterozygous mutations in the GFAP gene, which is the gene that encodes the major astrocyte intermediate filament protein.
|
28135564 |
2017 |
|
Alexander Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nineteen AxD patients with GFAP mutation were compared with 14 patients negative for GFAP mutation in whom AxD was suspected due to "atrophy of the medulla oblongata."
|
28448978 |
2017 |