A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction

Defects in purine nucleotide metabolism lead to substantial incorporation of xanthine and hypoxanthine into DNA and RNA

Bo Pang, José L. McFaline‐Figueroa, Nicholas E. Burgis et al. · Proceedings of the National Academy of Sciences · 2012 · 135 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

ITPase-deficient mice show growth retardation and die before weaning

Mehrdad Behmanesh, Kunihiko Sakumi, Nona Abolhassani et al. · Cell Death and Differentiation · 2009 · 72 citations

Life Sciences, Genetics, Molecular Genetics +6

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba et al. · The American Journal of Human Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Crystal Structure of Human Inosine Triphosphatase

Pål Stenmark, Petri Kursula, S. Flodin et al. · Journal of Biological Chemistry · 2006 · 58 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Recessive <scp><i>ITPA</i></scp> mutations cause an early infantile encephalopathy

Sietske H. Kevelam, Jörgen Bierau, Ramona Salvarinova et al. · Annals of Neurology · 2015 · 57 citations · Full text

Medicine, Genetics, Molecular Genetics +16