RecessiveITPAmutations cause an early infantile encephalopathy

Mutations inRARScause hypomyelination

(2014) Nicole I. Wolf et al.   ANNALS OF NEUROLOGY

Inborn errors of purine metabolism: clinical update and therapies

(2014) Shanti Balasubramaniam et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of human ITPase nucleobase specificity by site-directed mutagenesis

(2013) Amanda D. Gall et al.   BIOCHIMIE

The human ITPA polymorphic variant P32T is destabilized by the unpacking of the hydrophobic core

(2013) Peter D. Simone et al.   JOURNAL OF STRUCTURAL BIOLOGY

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

(2013) Peter D. Simone et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

Beta2-Adrenergic Receptor and Astrocyte Glucose Metabolism

(2012) Jun-hong Dong et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals

(2012) Jörgen Bierau et al.   PLoS One

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

(2012) B. Pang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Effect ofITPAPolymorphisms on the Enzyme Kinetic Properties of Human Erythrocyte Inosine Triphosphatase Toward its Substrates ITP and 6-Thio-ITP

(2011) Jaap A. Bakker et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Quantitative in vitro and in vivo characterization of the human P32T mutant ITPase

(2009) Greg Herting et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

ITPase-deficient mice show growth retardation and die before weaning

(2009) M Behmanesh et al.   CELL DEATH AND DIFFERENTIATION

Functional Study of the P32T ITPA Variant Associated with Drug Sensitivity in Humans

(2009) Elena I. Stepchenkova et al.   JOURNAL OF MOLECULAR BIOLOGY

Invited Article: An MRI-based approach to the diagnosis of white matter disorders

(2009) R. Schiffmann et al.   NEUROLOGY