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Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
(
Springer
, 2019 , Article)
Glutaric acidemia type 1 (GA1) is an inherited metabolic autosomal recessive disorder that is caused by a deficiency in glutaryl-CoA dehydrogenase (GCDH). Untreated patients suffer primarily from severe striatal damage. ...
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
(
Elsevier
, 2020 , Article)
Sjögren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. To date, 80 missense mutations have been identified in association with the Aldehyde Dehydrogenase 3 Family Member A2 ...
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
(
Springer
, 2021 , Article)
Epimerase-deficiency galactosemia (EDG) is caused by mutations in the UDP-galactose 4'-epimerase enzyme, encoded by gene GALE. Catalyzing the last reaction in the Leloir pathway, UDP-galactose-4-epimerase catalyzes the ...
An integrative bioinformatics pipeline to demonstrate the alteration of the interaction between the ALDH2*2 allele with NAD and Disulfiram.
(
Wiley
, 2019 , Article)
Alcohol use disorder (AUD) is a multifactorial psychiatric behavior disorder. Disulfiram is the first approved drug by the Food and Drug Administration for alcohol-dependent patients, which targets the ALDH2 enzyme. Several ...
Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach
(
Taylor and Francis
, 2020 , Article)
K-Ras is a small GTPase and acts as a molecular switch by recruiting GEFs and GAPs, and alternates between the inert GDP-bound and the dynamic GTP-bound forms. The amino acid at position 12 of K-Ras is a hot spot for ...
Enzyme therapy: a forerunner in catalyzing a healthy society?
(
Taylor & Francis
, 2020 , Article)
The use of enzymes in various industries has been prevalent for centuries. However, their potency as therapeutics remained latent until the late 1950 s, when scientists finally realized the gold mine they were sitting on. ...
Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.
(
Taylor & Francis
, 2016 , Article)
Mutations in the fibrinogen gamma chain (FGG) gene have been associated with various disorders, such as dysfibrinogenemia, thrombophilia, and hypofibrinogenemia. A literature survey showed that a residue exchange in ...
Durable immunity to oncogenic human papillomaviruses elicited by adjuvanted recombinant Adeno-associated virus-like particle immunogen displaying L2 17–36 epitopes
(
Elsevier, Ltd
, 2015 , Article)
Vaccination with the minor capsid protein L2, notably the 17–36 neutralizing epitope, induces broadly protective antibodies, although the neutralizing titers attained in serum are substantially lower than for the licensed ...
Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.
(
Elsevier
, 2019 , Article)
The nucleotide salvage pathway is used to recycle degraded nucleotides (purines and pyrimidines); one of the enzymes that helps to recycle purines is hypoxanthine guanine phosphoribosyl transferase 1 (HGPRT1). Therefore, ...
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
(
Taylor and Francis
, 2021 , Article)
Primary congenital glaucoma (PCG) is a rare glaucoma type that develops in early infantile period and contributes to an elevated pressure on ocular cavity. Variants in gene are the most encountered in PCG cases. The ...