|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Canavan disease (CD) is a fatal leukodystrophy caused by mutations in the aspA gene coding for the enzyme aspartoacylase.
|
31260162 |
2020 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified the aspartoacylase (ASPA) gene, mutated in Canavan disease, to be strongly up-regulated by RSV in several cell lines, including Canavan disease fibroblasts.
|
30446350 |
2019 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We now report that brain Nat8l knockdown elicited by intracerebroventricular/intracisternal administration of an adeno-associated viral vector carrying a short hairpin Nat8l inhibitory RNA to neonatal aspartoacylase-deficient Aspa<sup>Nur7/Nur7</sup> mice lowers [NAA<sub>B</sub>] and suppresses development of spongiform leukodystrophy.
|
29456021 |
2018 |
|
Canavan Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In contrast, elimination of aspartoacylase expression exclusively in oligodendrocytes elicited Canavan disease like pathology.
|
29116375 |
2018 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As validation we document 148 AJ enriched protein-altering alleles that overlap with "pathogenic" ClinVar alleles (table available at https://github.com/macarthur-lab/clinvar/blob/master/output/clinvar.tsv), including those that account for 10-100 fold differences in prevalence between AJ and non-AJ populations of some rare diseases, especially recessive conditions, including Gaucher disease (GBA, p.Asn409Ser, 8-fold enrichment); Canavan disease (ASPA, p.Glu285Ala, 12-fold enrichment); and Tay-Sachs disease (HEXA, c.1421+1G>C, 27-fold enrichment; p.Tyr427IlefsTer5, 12-fold enrichment).
|
29795570 |
2018 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Canavan's disease (CD) is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to spongiform degeneration of the white matter and severe impairment of psychomotor development.
|
28130616 |
2017 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We reported earlier on two patients with severe form of CD that both had two novel missense mutations in the ASPA: c.427 A > G; p. I143V and c.557 T > A; p. V186D (Zaki et al.
|
28879565 |
2017 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
|
28101991 |
2017 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Canavan disease (CD) is a debilitating and lethal leukodystrophy caused by mutations in the aspartoacylase (<i>ASPA</i>) gene and the resulting defect in <i>N</i>-acetylaspartate (NAA) metabolism in the CNS and peripheral tissues.
|
28194442 |
2017 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.
|
28101991 |
2017 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis of N-acetyl-L-aspartate (NAA) into aspartate and acetate.
|
27531131 |
2017 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
|
28349879 |
2017 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a 2 year-old Egyptian child with severe CD who harbors a novel homozygous missense variant (c.91G > T, p.V31F) in the ASPA gene.
|
26613958 |
2016 |
|
Canavan Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Atypical clinical and radiological course of a patient with Canavan disease.
|
26586007 |
2016 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we report an intracerebroventricularly delivered AspA gene therapy regime using three serotypes of rAAVs at a 20-fold reduced dose than previously described in AspA(-/-) mice, a bona-fide mouse model of CD.
|
27039844 |
2016 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Atypical clinical and radiological course of a patient with Canavan disease.
|
26586007 |
2016 |
|
Canavan Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.
|
27927234 |
2016 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Effects on brain energy observed following AAV-Olig001-aspartoacylase gene therapy are shown to be consistent with a metabolic profile observed in mild cases of Canavan disease, implicating NAA in the maintenance of energetic integrity during myelination via oligodendroglial aspartoacylase.
|
27717881 |
2016 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain and is a recognized cause of Canavan disease (CD), which affect children.
|
26797702 |
2016 |
|
Canavan Disease
|
1.000 |
Biomarker
|
disease |
MGD |
Canavan disease (CD) is a severe, lethal leukodystrophy caused by deficiency in aspartoacylase (ASPA), which hydrolyzes N-acetylaspartate (NAA).
|
26511242 |
2015 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Canavan disease - unusual imaging features in a child with mild clinical presentation.
|
25107638 |
2015 |
|
Canavan Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other previously reported mutations, which led to damage in the ASPA enzyme activities found among CD Arab patients are c.530 T>C (p.I177T), c.79G>A (p.G27R), IVS4+1G>T, and a 92kb deletion, which is 7.16kb upstream from the ASPA start site.
|
25668701 |
2015 |
|
Canavan Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Canavan disease - unusual imaging features in a child with mild clinical presentation.
|
25107638 |
2015 |
|
Canavan Disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.
|
25003821 |
2014 |