Browsing by Author "Krishnamoorthy, Navaneethakrishnan"
Now showing items 1-3 of 3
-
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
Ismail, Hesham M; Krishnamoorthy, Navaneethakrishnan; Al-Dewik, Nader; Zayed, Hatem; Mohamed, Nura A; Giacomo, Valeria Di; Gupta, Sapna; Häberle, Johannes; Thöny, Beat; Blom, Henk J; Kruger, Waren D; Ben-Omran, Tawfeg; Nasrallah, Gheyath K... more authors ... less authors ( 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 ... -
Structural modeling of p.V31F variant in the aspartoacylase gene.
Krishnamoorthy, Navaneethakrishnan; Zayed, Hatem ( 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.
Zaki, Osama K; Krishnamoorthy, Navaneethakrishnan; El Abd, Heba S; Harche, Soumaya A; Mattar, Reem A; Al Disi, Rana S; Nofal, Mariam Y; El Bekay, Rajaa; Ahmed, Khalid A; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( 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 ...