Associated Papers
Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.
Amin Nordin FD et al.
Molecular Genetics and Metabolism Reports, 2024
Arginine-178 is an essential residue for ITPA function.
Burgis NE et al.
Archives of Biochemistry and Biophysics, 2023
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature.
Sharma Y et al.
Neuropediatrics, 2022
Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.
Zamzami MA
Cells, 2022
Structural dynamics of inosine triphosphate pyrophosphatase (ITPA) protein and two clinically relevant mutants: molecular dynamics simulations.
Houndonougbo Y et al.
Journal of Biomolecular Structure & Dynamics, 2021
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M et al.
Journal of Human Genetics, 2020
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
Kaur P et al.
American Journal of Medical Genetics. Part A, 2019
A disease spectrum for ITPA variation: advances in biochemical and clinical research.
Burgis NE
Journal of Biomedical Science, 2016
Recessive ITPA mutations cause an early infantile encephalopathy.
Kevelam SH et al.
Annals of Neurology, 2015
Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function.
Schroader JH et al.
Wiley Interdisciplinary Reviews. Rna, 0
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