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Full-Text Articles in Life Sciences
Structural Dynamics Of Inosine Triphosphate Pyrophosphatase (Itpa) Protein And Two Clinically Relevant Mutants: Molecular Dynamics Simulations, Yao Houndonougbo, Bethany Pugh, Kandise Vanwormer, Caitlin April, Nicholas Burgis
Structural Dynamics Of Inosine Triphosphate Pyrophosphatase (Itpa) Protein And Two Clinically Relevant Mutants: Molecular Dynamics Simulations, Yao Houndonougbo, Bethany Pugh, Kandise Vanwormer, Caitlin April, Nicholas Burgis
Chemistry and Biochemistry Faculty Publications
The inosine triphosphate pyrophosphatase (ITPA) protein is responsible for removing noncanonical purine nucleoside triphosphates from intracellular nucleotide pools. Absence of ITPA results in genomic instability and increased levels of inosine in DNA and RNA. The proline to threonine substitution at position 32 (P32T) affects roughly 15% of the global population and can modulate treatment outcomes for cancer, lupus, and hepatitis C patients. The substitution of arginine with cysteine at position 178 (R178C) is extremely uncommon and has only been reported in a small cohort of early infantile encephalopathy patients suggesting that a functional ITPA protein is required for life in …