Results 161 to 170 of about 13,983 (221)

Lesch-Nyhan syndrome a dental approach: case report. [PDF]

Afr Health Sci
Luz Campos PSS, da Silva LCP, Taitson PF, da Silva Oliveira LA, Bautista LC.   +4 more
europepmc   +1 more source

Nucleotide salvage, genome instability, and potential therapeutic applications. [PDF]

Nucleic Acids Res
Wang P, Wang C, Wang Y.
europepmc   +1 more source

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship. [PDF]

Ann Neurol
Sorrentino U, O'Neill AG, Kollman JM, Jinnah HA, Zech M.   +4 more
europepmc   +1 more source

Lactiplantibacillus plantarum WLPL04 from Human Breast Milk Attenuates Hyperuricemia via Coordinated Purine Salvage Pathway, Renal Transporter Regulation, and Gut Microbiota Remodeling. [PDF]

Nutrients
Wei M, Hu Y, Zhang Z, Qiu L, Tao X, Wei H.   +5 more
europepmc   +1 more source

NUDT5 regulates purine metabolism and thiopurine sensitivity by interacting with PPAT. [PDF]

Science
Wu Z, Nguyen PT, Sondhi V, Yao RW, Lu Z, Dai T, Chiang JC, Cai F, Williams IM, Blatt EB, Shang Z, Cai L, Zhang J, Moore MD, Alshamleh I, Li X, Ogu T, Zacharias LG, Winston R, Patricio JS, Johnson X, Chen WM, Cong Q, Mathews TP, Zhang Y, Zhang L, DeBerardinis RJ.   +26 more
europepmc   +1 more source

Pediococcus acidilactici GR-5 alleviates hyperuricemia by degrading purine nucleosides and improving gut microbiota metabolism. [PDF]

NPJ Sci Food
Ji J, An ZY, Khan A, Peng L, Kulshreshtha S, Salama ES, Yun H, Liu P, Jin WL, Li X.   +9 more
europepmc   +1 more source

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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

New England Journal of Medicine, 1983
A DEFICIENCY in the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) is associated with two clinical syndromes.
Jeffrey S. Flier, Mary Jean Moore, James M. Wilson, Anne B. Young, William N. Kelley   +4 more
openaire   +4 more sources

Human and Mouse Hypoxanthine-Guanine Phosphoribosyltransferase: Dimers and Tetramers

Science, 1979
Human and mouse hypoxanthine-guanine phosphoribosyltransferase subunits combine to form an active heteropolymer. Dimers form the basic subunit structure of the enzymes, yet the dimers can readily associate to form tetramers. The equilibrium between dimers and tetramers is significantly influenced by the ionic strength of the enzyme solvent.
G G, Johnson, L R, Eisenberg, B R, Migeon   +2 more
openaire   +4 more sources

Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency

Clinica Chimica Acta, 2017
Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior.
R J, Torres, S, Puente, A, Menendez, N, Fernandez-Garcia   +3 more
openaire   +2 more sources