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A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
(
Wiley
, 2019 , Article)
Pompe disease is an autosomal recessive lysosomal storage disease caused by acid α-glucosidase (GAA) deficiency, resulting in intralysosomal accumulation of glycogen, including cardiac, skeletal, and smooth muscle cells. ...
“Safe” Chitosan Zinc Oxide Nanocomposite Has Minimal Organ-Specific Toxicity on Early Stages of Zebrafish Development
(
American Chemical Society
, 2019 , Article)
Marine biofouling is considered one of the most challenging issues affecting maritime industries worldwide. In this regard, traditional biocides, being used to combat biofouling, have high toxicity toward the aquatic system. ...
Screening Novel Molecular Targets of Metformin in Breast Cancer by Proteomic Approach.
(
Frontiers Media
, 2017 , Article)
Metformin is a commonly prescribed antihyperglycemic drug, and has been investigated in vivo and in vitro for its effect to improve the comorbidity of diabetes and various types of cancers. Several studies investigated the ...
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
(
Springer Verlag
, 2017 , Article)
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl ...
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 ...
CD146, a novel target of CD44-signaling, suppresses breast tumor cell invasion.
(2017 , Article)
We have previously validated three novel CD44-downstream positively regulated transcriptional targets, including Cortactin, Survivin and TGF-β2, and further characterized the players underlying their separate signaling ...
P3. 210 Estimating the antibody prevalence of herpes simplex virus type 2 among select middle east and north africa populations
(
BMJ Publishing Group
, 2017 , Conference Proceedings)
Introduction There are very limited data on herpes simplex virus type 2 (HSV-2) infection in the Middle East and North Africa (MENA). We examined the overall and age-specific HSV-2 antibody prevalence among select MENA ...
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 ...
Propionic acidemia in the Arab World.
(
Elsevier
, 2015 , Article)
The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in ...
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 ...