Correction: Corrigendum: Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

C, George Priya Doss; Alasmar, Dima R.; Bux, Reem; Sneha, P.; Bakhsh, Fadheela Dad; Al-Azwani, Iman K.; Bekay, Rajaa El; Zayed, Hatem

doi:10.1038/srep39370

Cited by 4 publications

(5 citation statements)

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“…G6PD deficiency, a rare disorder worldwide, is a common X-linked genetic disease with a high prevalence of up to 30% in Arab countries (1,3). This deficiency may cause acute hemolysis due to a lack of antioxidant protection in the setting of oxidant injury by drugs (e.g., Primaquine, Sulfanilamide, Isobutyl nitrite), acute diseases, and certain foods, such as fava beans (4).…”

Section: Discussionmentioning

confidence: 99%

Therapeutic Plasma Exchange in G6PD Deficient Patient Complicated with Intravascular Hemolysis: A case report

Turak¹,

Ibrahim²,

Öztürk³

et al. 2020

Erciyes Med J

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Glucose-6-phosphate dehydrogenase is an enzyme that protects the erythrocytes against oxidative damage. G6PD deficiency is a common disorder in Gulf Countries that may present with hemolytic anemia and acute renal failure after exposure to oxidative triggers, such as drug, infection or some foodstuffs. In this study, a severe and complicated case of a G6PD deficient patient was presented. A 65-year old G6PD deficient patient presented with acute renal failure and intravascular hemolysis after eating fava beans. Therapeutic plasma exchange was used in the patient for two consecutive days. Clinical and laboratory findings were improved with plasma exchange. Although supportive therapy is enough for mild cases, therapeutic plasma exchange can be life-saving in complicated cases.

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Section: Discussionmentioning

confidence: 99%

Therapeutic Plasma Exchange in G6PD Deficient Patient Complicated with Intravascular Hemolysis: A case report

Turak¹,

Ibrahim²,

Öztürk³

et al. 2020

Erciyes Med J

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“…predicted the best and PANTHER predicted the worst. Such type of statistical analysis not only helps in understanding the efficiency of the tools but also increase the validation of our predictions [Doss et al, 2017]. IDUA mutations have been known to be causing disease conditions at varying severity including the most severe form (Hurler syndrome), an intermediate form (Hurler-Scheie syndrome), and the least severe or mild form (Scheie syndrome) [Hopwood and Morris, 1990;Neufeld and Muenzer, 2001].…”

Section: Discussionmentioning

confidence: 99%

“…Overall, MAPP, SNAP, and PolyPhen2 predicted the best and PANTHER predicted the worst. Such type of statistical analysis not only helps in understanding the efficiency of the tools but also increase the validation of our predictions [Doss et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Several in silico tools have been developed in recent years to study the effect of mutations on the structural and functional behavior of the protein [Kwasigroch et al, 2002;Ng and Henikoff, 2003;Bao et al, 2005;Dantzer et al, 2005;Tavtigian et al, 2005;Cheng et al, 2006;Kono et al, 2007;Capriotti et al, 2006Capriotti et al, , 2008Masso and Vaisman, 2008;Reumers et al, 2009;Calabrese et al, 2009;Kumar et al, 2009;Adzhubei et al, 2010]. In the recent years, computational studies have improved in screening and prioritizing the deleterious nsSNPs (nonsynonymous SNPs) and identifying their conformational changes in the protein [Rajasekaran et al, 2007;Doss and Sethumadhavan, 2009;Rabbani et al, 2012;Doss et al, 2017;Zaki et al, 2017]. Several studies have reported the association of nsSNPs with the IDUA gene, but a structural analysis using molecular dynamics studies have not yet been performed.…”

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confidence: 99%

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An Integrated Computational Framework to Assess the Mutational Landscape of α‐L‐Iduronidase IDUA Gene

Tanwar

2017

J of Cellular Biochemistry

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Mucopolysaccharidosis type I is a lysosomal genetic disorder caused due to the deficiency of the a-L-iduronidase enzyme (IDUA). Mutations associated with IDUA lead to mild to severe forms of diseases characterized by different clinical features. In the present study, we first performed a comprehensive analysis using various in silico prediction tools to screen and prioritize the missense mutations or nonsynonymous SNPs (nsSNPs) associated with IDUA. Subsequently, statistical analysis was empowered to examine the predictive ability and accuracy of the in silico prediction tool results supporting the disease phenotype ranging from mild to severe. Till date, no study has been carried out in IDUA in analyzing the impact of the nsSNPs at the structural level. In this context with the aid of pathogenic and stability prediction in silico tools, we identified nsSNPs R89Q, R89W, and P533R to be most deleterious and disease-causing having impact on the function of the protein. Extensive molecular dynamics analysis was performed using Gromacs to understand the deleterious nature of the mutants. Variations observed between the trajectory files of native and mutants R89Q, R89W, and P533R using Gromacs utilities enabled us to measure the adverse effects on the protein and could be the underlying reasons for the disease pathogenesis. These findings may be helpful in understanding the genotype-phenotype relationship and molecular basis of the disease to design drugs for better treatment.

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“…They account for approximately half of the known gene lesions responsible for the human inherited diseases [Mah and Chia, ]. In recent years, in silico prediction tools of different algorithms predict the pathogenic and destabilizing nature of a nsSNP either in the view of sequence or structural context of the protein [Gerek et al, ; Ali et al, ; Thirumal Kumar et al, ; Doss et al, ]. Disease‐causing and pathogenic nsSNPs have the ability to alter the structural conformation and also the stability of the protein [Stefl et al, ].…”

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confidence: 99%

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22

Agrahari

2017

J of Cellular Biochemistry

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Mutations in the Peripheral Myelin Protein 22 (PMP22) leads to Charcot Marie Tooth type 1A (CMT1A, a subtype of CMT1) disease which is the most common inherited neuropathy of peripheral nervous system. In the present study, we used series of in silico prediction methods to screen and identify the most deleterious non-synonymous SNPs (nsSNPs) in PMP22 gene. Out of 48 nsSNPs, five nsSNPs (L16P, L19P, T23R, W28R, and L147R) associated with PMP22 were predicted to be highly deleterious and destabilizing the protein. To explore the possible structure-function relationship, we employed abinitio modeling strategy using the CABS-fold server to predict the three-dimensional structure models in the absence of crystallized structures in PMP22 protein. We used Cytoscape 3.4.0 plugin Integrated Complex Traits Networks interface (iCTNet) to identify the probable drug-gene interactions in PMP22 gene. A total of 22 chemical compounds yielded from the aforementioned tool was subjected to Molinspiration and OSIRIS program to screen and identify the potent drug molecules for further analysis. Five chemical compounds with excellent bioavailability and drug relevant property were selected for molecular docking simulation study. We modeled five mutant structures at their corresponding positions and performed molecular docking simulation analysis using AutoDock Tools (ADT) version 1.5.6 and ArgusLab 4.0.1 tools to analyze their interaction patterns and binding efficacy. Based on the results obtained from the computational study, we predict that estradiol could be a potential drug of choice for treating patients with CMT1A which needs larger attention from biologists in the near future. J. Cell. Biochem. 118: 3730-3743, 2017. © 2017 Wiley Periodicals, Inc.

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Correction: Corrigendum: Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

Cited by 4 publications

References 0 publications

Therapeutic Plasma Exchange in G6PD Deficient Patient Complicated with Intravascular Hemolysis: A case report

Therapeutic Plasma Exchange in G6PD Deficient Patient Complicated with Intravascular Hemolysis: A case report

An Integrated Computational Framework to Assess the Mutational Landscape of α‐L‐Iduronidase IDUA Gene

A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22

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