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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 ...
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
(
Wiley
, 2018 , Article)
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...