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تصفح College of Health Sciences حسب الموضوع 
  •   مركز المجموعات الرقمية لجامعة قطر
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  • تصفح College of Health Sciences حسب الموضوع
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  • تصفح College of Health Sciences حسب الموضوع
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    تصفح College of Health Sciences حسب الموضوع "Molecular dynamics"

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    السجلات المعروضة 1 -- 10 من 10

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        Chapter Seven Exploring the effect of disease causing mutations in metal binding sites of human ARSA in metachromatic leukodystrophy 

        Madhana Priya, N.; Sidharth Kumar, N.; Udhaya Kumar, S.; Mohanraj, G.; Magesh, R.; Zayed, Hatem; Vasudevan, Karthick; C, George Priya Doss... more authors ... less authors ( Elsevier , 2024 , Book chapter)
        The arylsulfatase A (ARSA) gene is observed to be deficient in patients with metachromatic leukodystrophy (MLD), a type of lysosomal storage disease. MLD is a severe neurodegenerative disorder characterized by an autosomal ...
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        A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease. 

        Thirumal Kumar, D; Iyer, Sharada; Christy, J Priyadharshini; Siva, R; Tayubi, Iftikhar Aslam; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Elsevier , 2019 , Book chapter)
        Gaucher's disease (GD) is the most commonly known lysosomal disorder that occurs due to mutations in the β-glucocerebrosidase (GBA) protein. Our previous findings (Thirumal Kumar, Eldous, Mahgoub, George Priya Doss, Zayed, ...
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        Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ). 

        Thirumal Kumar, D; Judith, E; Priyadharshini Christy, J; Siva, R; Tayubi, Iftikhar Aslam; Chakraborty, Chiranjib; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Elsevier , 2019 , Book chapter)
        Fabry's disease (FD) is the second most commonly occurring lysosomal storage disorders (LSDs). The mutations in α-galactosidase A (GLA) protein were widely found to be causative for the Fabry's disease. These mutations ...
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        Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2. 

        Thirumal Kumar, D; Jerushah Emerald, L; George Priya Doss, C; Sneha, P; Siva, R; Charles Emmanuel Jebaraj, W; Zayed, Hatem... more authors ... less authors ( Springer US , 2018 , Article)
        The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes ...
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        Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder - Blau syndrome. 

        Thirumal Kumar, D; Udhaya Kumar, S; Nishaat Laeeque, Ahmed Shaikh; Apurva Abhay, Shivalkar; Bithia, R; Magesh, R.; Kumar, Maignana; Zayed, Hatem; George Priya Doss, C... more authors ... less authors ( Elsevier , 2020 , Article)
        Blau syndrome (BS), which affects the eyes, skin, and joints, is an autosomal dominant genetic inflammatory disorder. BS is caused by mutations in the NOD2 gene. However, there are no direct treatments, and treatment with ...
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        Computational structural assessment of BReast CAncer type 1 susceptibility protein (BRCA1) and BRCA1-Associated Ring Domain protein 1 (BARD1) mutations on the protein-protein interface 

        Thirumal Kumar, D.; Udhaya Kumar, S.; Jain, Nikita; Sowmya, Baviri; Balsekar, Kamakshi; Siva, R.; Kamaraj, Balu; Sidenna, Mariem; George Priya Doss, C.; Zayed, Hatem... more authors ... less authors ( Elsevier , 2022 , Book chapter)
        Breast cancer type 1 susceptibility protein (BRCA1) is closely related to the BRCA2 (breast cancer type 2 susceptibility protein) and BARD1 (BRCA1-associated RING domain-1) proteins. The homodimers were formed through their ...
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        Elucidating the role of interacting residues of the MSH2-MSH6 complex in DNA repair mechanism: A computational approach. 

        Thirumal Kumar, D; Susmita, B; Judith, E; Priyadharshini Christy, J; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Elsevier , 2019 , Article)
        The DNA repair system is crucial to repair the error resulting in DNA replication. MSH2-MSH6 protein complex plays a significant role in maintaining the mismatch repair mechanism. Mutations in the interface between the two ...
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        An extensive computational approach to analyze and characterize the functional mutations in the galactose-1-phosphate uridyl transferase (GALT) protein responsible for classical galactosemia 

        S, Udhaya Kumar; D, Thirumal Kumar; R, Siva; C, George Priya Doss; Zayed, Hatem ( Elsevier , 2019 , Article)
        Type I galactosemia is a very rare autosomal recessive genetic metabolic disorder that occurs because of the mutations present in the galactose-1-phosphate uridyl transferase (GALT) gene, resulting in a deficiency of the ...
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        An in silico analysis of the impact of POLE mutations on cladribine docking 

        Loganathan, L.; Al-Haidose, A.; Ganesh Kumar, A.; Sujatha, L. B.; Carlus, F. H.; Alharbi, A.; Alhyassat, S.; Muthusamy, K.; Carlus, S. J.; Abdallah, A. M.... more authors ... less authors ( Verduci Editore srl , 2022 , Article)
        OBJECTIVE: Polymerase ε exonuclease (POLE) is an enzyme involved in DNA replication and may be an attractive therapeutic target in various cancers. Here we sought to model the impact of specific POLE mutations on protein ...
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        Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. 

        Thirumal Kumar, D; Jain, Nikita; Udhaya Kumar, S; Jena, Prangya Paramita; Ramamoorthy, Siva; George Priya Doss, C; Zayed, Hatem... more authors ... less authors ( Taylor & Francis , 2020 , Article)
        Krabbe disease (KD), also known as globoid cell leukodystrophy disease, is an autosomal recessive lysosomal storage genetic disorder, which is caused by the deficiecncy of galactocerebrosidase (GALC) coding gene (). This ...

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        مركز المجموعات الرقمية لجامعة قطر هو مكتبة رقمية تديرها مكتبة جامعة قطر بدعم من إدارة تقنية المعلومات

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