|
Alexander Disease
|
|
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 |
|
Alexander Disease
|
|
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 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.
|
24742911 |
2014 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
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 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
|
23364391 |
2013 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
GFAP mutations, age at onset, and clinical subtypes in Alexander disease.
|
21917775 |
2011 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
|
21533827 |
2011 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Focal central white matter lesions in Alexander disease.
|
21572052 |
2011 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
|
21533827 |
2011 |
|
Alexander Disease
|
|
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 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia.
|
19412928 |
2009 |
|
Alexander Disease
|
|
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 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Adult-onset Alexander disease : report on a family.
|
18004641 |
2008 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Adult-onset Alexander disease with progressive ataxia and palatal tremor.
|
17960815 |
2008 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
|
17934883 |
2007 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
|
17894839 |
2007 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
|
17805552 |
2007 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis.
|
17043438 |
2006 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
|
15732097 |
2005 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations.In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis.
|
15675360 |
2005 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
|
15732097 |
2005 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Unusual variants of Alexander's disease.
|
15732098 |
2005 |
|
Alexander Disease
|
|
0.850 |
CausalMutation
|
CLINVAR |
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.
|
12638020 |
2003 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?
|
12944715 |
2003 |
|
Alexander Disease
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
|
12975300 |
2003 |