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Yadav, R.

Publications and source records attributed to Yadav, R..

2 recordsLinked to original sources

Homology Modeling And Docking Study Of Shewanella Like Protein Phosphatase Involved In Development Of Ookinetes In Plasmodium

Parasites of the genus Plasmodium cause a great deal of morbidity and mortality in worldwide, largely in regions with limited access and indication to the tools necessary to control mosquito populations and to treat human infections of Malaria. Five species of this class of eukaryotic pathogens cause different human disease, with Plasmodium falciparum alone is infecting approximately 500 million people per year and resulting in approximately 1 million deaths. The two genes encoding the Shewanella-like phosphatases of P.falciparum, SHLP-1 and SHLP-2, are conserved among members of Plasmodium family. SHLP is frequently found in asexual blood stages and expressed at all stages of the life cycle of parasite. SHLP deletion results in a reduction in microneme formation, ookinetes (zygote) development and complete ablation of oocyst formation, thereby blocking transmission of parasite.. Structure Modeling of SHLP protein can be helpful in understanding the active site and binding site information and hence can be used for drug designing for therapeutics against malaria. Effective role of Resveratrol is studied against SHLP protein using Docking method to identify protein-ligand interaction scheme and bond formation. Study suggests that resveratrol have strong interaction with SHLP protein and can be used as ligand for drug designing.

bioinformatics

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential pathogenic mechanism. Genome sequencing identified novel variation that was shared by all probands and three recombination events that narrowed the causal locus to a genomic segment including TAF1. Transcriptome assembly in neural derivative cells discovered novel TAF1 transcripts, including a truncated transcript exclusively observed in probands that involved aberrant splicing and intron retention (IR) associated with a SINE-VNTR-Alu (SVA)-type retrotransposon insertion. This IR correlated with decreased expression of the predominant TAF1 transcript and altered expression of neurodevelopmental genes; both the IR and aberrant TAF1 expression patterns were rescued by CRISPR/Cas9 excision of the SVA. These data suggest a unique genomic cause of XDP and may provide a roadmap for integrative genomic studies in other unsolved Mendelian disorders.\n\nHighlights O_LIGenome assembly narrows the XDP causal locus to a segment including TAF1\nC_LIO_LIXDP-specific SVA insertion induces intron retention and down-regulation of TAF1\nC_LIO_LICRISPR/Cas9 excision of SVA rescues aberrant splicing and cTAF1 expression in XDP\nC_LIO_LIGene networks perturbed in proband cells associate to synapse and neurodevelopment\nC_LI

genomics