|
rs58064122
|
|
|
0.850 |
GeneticVariation |
BEFREE |
By introducing Alexander disease (AxD)-associated hotspot mutations (R79C, R239C) into GFAP gene of hPSCs and subsequently inducing astrocyte differentiation, we found that GFAP mutations impaired mitochondrial transfer from astrocytes and reduced astrocytic CD38 expression.
|
31327963 |
2019 |
|
rs58064122
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Hela and U2-OS cells transfected with GFAP cDNA with c. 239 T > C showed dot-like cytoplasmic aggregation, similar to R239C, a common mutation found in severe infantile AxD.
|
29573842 |
2018 |
|
rs58064122
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We find that both assembled and unassembled wild type (wt) and R239C mutant GFAP protein interacts with the 20 S proteasome complex and that the R239C AxD mutation does not interfere with this interaction.
|
20110364 |
2010 |
|
rs58064122
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Functional studies on this complex allele revealed less severe aggregation patterns compared to those observed with p.R239C GFAP mutant, associated with a severe Alexander disease phenotype.
|
18197187 |
2008 |
|
rs58064122
|
|
|
0.850 |
GeneticVariation |
BEFREE |
He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease.
|
12026242 |
2002 |
|
rs121909717
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease.
|
24742911 |
2014 |
|
rs121909717
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Collectively, these data confirm that the effects of the R416W GFAP are dominant, changing the assembly process in a way that encourages aberrant filament-filament interactions that then lead to protein aggregation and chaperone sequestration as early events in Alexander disease.
|
16826512 |
2006 |
|
rs121909717
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Interestingly, this R</span>416W mutation has also been reported in both infantile and juvenile forms of Alexander disease.
|
14550921 |
2003 |
|
rs59793293
|
|
|
0.820 |
GeneticVariation |
BEFREE |
By introducing Alexander disease (AxD)-associated hotspot mutations (R79C, R239C) into GFAP gene of hPSCs and subsequently inducing astrocyte differentiation, we found that GFAP mutations impaired mitochondrial transfer from astrocytes and reduced astrocytic CD38 expression.
|
31327963 |
2019 |
|
rs59793293
|
|
|
0.820 |
GeneticVariation |
BEFREE |
We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation.
|
18584981 |
2009 |
|
rs59565950
|
|
|
0.820 |
GeneticVariation |
BEFREE |
R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease.
|
17383133 |
2007 |
|
rs59565950
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In this transgenic animal model, mice did not show megalencephaly, leukodystrophy, or seizure characteristic of Alexander disease with R239H mutation.
|
17299771 |
2007 |
|
rs59285727
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The mother of a proband was demonstrated to be a presymptomatic patient with type II AxD with a p.R79H mutation.
|
23364391 |
2013 |
|
rs797044571
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement.
|
23743246 |
2013 |
|
rs267607505
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A novel glial fibrillary acidic protein (GFAP) mutation, Y257C, is reported in a patient with adult-onset Alexander disease.
|
17960815 |
2008 |
|
rs61497286
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Here we report that a 10-year-old Japanese patient who showed clinical signs of Alexander disease is heterozygous for a C to T transition in which predicts a novel A244V amino acid substitution in the conserved 2A alpha-helix domain of GFAP.
|
11595337 |
2001 |
|
rs267607509
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study.
|
30942895 |
2019 |
|
rs748860341
|
|
|
0.710 |
GeneticVariation |
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 |
|
rs797044572
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Although there is only one previous report of a patient with an F80S mutation, our data support that F80S can cause the severe, infantile form of AxD.
|
29573842 |
2018 |
|
rs267607518
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex.
|
21822933 |
2012 |
|
rs59985777
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The L331P mutation may be associated with the mild phenotype of Alexander's disease.
|
15465095 |
2004 |
|
rs1344968326
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs767331653
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene.
|
25828773 |
2015 |
|
rs2070935
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our investigation revealed the possibility that the C/C genotype at rs2070935 of the GFAP promoter in late-onset AxD was associated with an earlier onset and a more rapid progression of ambulatory disability compared with the other genotypes.
|
23903069 |
2013 |