ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

J Fellay, AJ Thompson, D Ge, CE Gumbs, TJ Urban… - Nature, 2010 - nature.com
Chronic infection with the hepatitis C virus (HCV) affects 170 million people worldwide and
is an important cause of liver-related morbidity and mortality. The standard of care therapy …

ITPA (inosine triphosphate pyrophosphatase): from surveillance of nucleotide pools to human disease and pharmacogenetics

PD Simone, YI Pavlov, GEO Borgstahl - Mutation Research/Reviews in …, 2013 - Elsevier
Cellular nucleotide pools are often contaminated by base analog nucleotides which interfere
with a plethora of biological reactions, from DNA and RNA synthesis to cellular signaling. An …

Inosine triphosphate pyrophosphatase: A guardian of the cellular nucleotide pool and potential mediator of RNA function

JH Schroader, MT Handley… - Wiley Interdisciplinary …, 2023 - Wiley Online Library
Inosine triphosphate pyrophosphatase (ITPase), encoded by the ITPA gene in humans, is an
important enzyme that preserves the integrity of cellular nucleotide pools by hydrolyzing the …

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

B Pang, JL McFaline, NE Burgis… - Proceedings of the …, 2012 - National Acad Sciences
Deamination of nucleobases in DNA and RNA results in the formation of xanthine (X),
hypoxanthine (I), oxanine, and uracil, all of which are miscoding and mutagenic in DNA and …

Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction

AJ Thompson, J Fellay, K Patel, HL Tillmann, S Naggie… - Gastroenterology, 2010 - Elsevier
BACKGROUND & AIMS: In a genome-wide association study of patients being treated for
chronic hepatitis C, 2 functional variants in ITPA that cause inosine triphosphatase (ITPase) …

Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function

Y Hitomi, ET Cirulli, J Fellay, JG McHutchison… - Gastroenterology, 2011 - Elsevier
Background & Aims Genetic variation of inosine triphosphatase (ITPA) causing an
accumulation of inosine triphosphate (ITP) has been shown to protect patients against …

GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data

K Zhao, Z Lu, JW Park, Q Zhou, Y Xing - Genome biology, 2013 - Springer
To characterize the genetic variation of alternative splicing, we develop GLiMMPS, a robust
statistical method for detecting splicing quantitative trait loci (sQTLs) from RNA-seq data …

[PDF][PDF] Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir

F Suzuki, Y Suzuki, N Akuta, H Sezaki… - …, 2011 - Wiley Online Library
Polymorphisms of the inosine triphosphatase (ITPA) gene influence anemia during
pegylated interferon (PEG‐IFN) and ribavirin (RBV) therapy, but their effects during triple …

Recessive ITPA mutations cause an early infantile encephalopathy

SH Kevelam, J Bierau, R Salvarinova… - Annals of …, 2015 - Wiley Online Library
Objective To identify the etiology of a novel, heritable encephalopathy in a small group of
patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select …

genetic factors that modify the outcome of viral hepatitis

AF Stättermayer, T Scherzer… - Alimentary …, 2014 - Wiley Online Library
Background Genetic factors can play an important role for treatment response and disease
progression in chronic viral hepatitis. Aim To review the influence of host genetic factors on …