BioTechnology: An Indian Journal
ISSN (PRINT): 0974-7435

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Developmental Biology

 Double explicitness tyrosine phosphorylation-controlled kinase 1 A (DYRK1A) is fundamental for human turn of events, and DYRK1A haploinsufficiency is related with an unmistakable formative condition and variable clinical highlights. Here, we present a patient with DYRK1A haploinsufficiency disorder, including facial dysmorphism, postponed engine improvement, cardiovascular framework deformities, and mind decay. Exome sequencing recognized a novel anew heterozygous change of the human DYRK1A quality (c.1185dup), which produced a translational end codon and brought about a C-terminally shortened protein (DYRK1A-E396ter). To examine the sub-atomic impact of this truncation, we created mammalian cell and Drosophila models that restated the DYRK1A protein truncation. Examination of the structure and disfigurement vitality of the freak protein anticipated a decrease in protein steadiness. Tentatively, the freak protein was effectively debased by the ubiquitin-subordinate proteasome pathway and was scarcely distinguishable in mammalian cells. All the more critically, the freak kinase was characteristically idle and had minimal negative effect on the wild-type protein. Additionally, the freak protein minimally affected Drosophila phenotypes, affirming its loss-of-work in vivo. Together, our outcomes propose that the novel heterozygous change of DYRK1A brought about loss-of-capacity of the kinase action of DYRK1A and may add to the formative postpone saw in the patient.

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Citations : 875

BioTechnology: An Indian Journal received 875 citations as per Google Scholar report

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