Browsing College of Health Sciences by Subject "Canavan disease"
Now showing items 1-5 of 5
-
Canavan disease: an Arab scenario.
( Elsevier Inc. , 2015 , Article)The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with ... -
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
( Springer US , 2017 , Article)Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development ... -
Novel mutation in an Egyptian patient with infantile Canavan disease.
( Springer Verlag (Germany) , 2016 , Article)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 that catalyzes the deacetylation ... -
Structural modeling of p.V31F variant in the aspartoacylase gene.
( Springer Verlag , 2016 , Article)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 ... -
Two patients with Canavan disease and structural modeling of a novel mutation.
( Springer US , 2017 , Article)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 ...