Results 201 to 210 of about 17,899 (259)

HPRT deficiency in cells and mice [PDF]

, 1993
Wu, Chao-Liang
core  

Harnessing lactic acid bacteria for nicotinamide mononucleotide biosynthesis: a review of strategies and future directions. [PDF]

Front Microbiol
Kong L, Li X, Liu T, Yao Q, Qin J.
europepmc   +1 more source

Epigenetic Upregulation of Carotid Body Angiotensin Signaling Increases Blood Pressure. [PDF]

Hypertension
Zhu F, Wang Z, Davis K, McSwiggin H, Zyuzin J, Liu J, Yan W, Rehan VK, Jendzjowsky N.   +8 more
europepmc   +1 more source

Purine metabolism in plant pathogenic fungi. [PDF]

Front Microbiol
Sun M, Dai P, Cao Z, Dong J.
europepmc   +1 more source

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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. Torres, S. Puente, A. Menendez, N. Fernández-García   +3 more
semanticscholar   +4 more sources

The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

QJM: An International Journal of Medicine, 1973
The spectrum of clinical manifestations of hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) deficiency is presented by reference to eight patients from five kindred.
B. Emmerson, L. Thompson
semanticscholar   +4 more sources

Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population

Nucleosides, Nucleotides and Nucleic Acids, 2011
Mutation of hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior, or HPRT-related gout (Kelley-Seegmiller syndrome). The marked heterogeneity of HPRT deficiency is well known, with more than 300 mutations at the HPRT gene ...
Yasukazu Yamada, N. Wakamatsu, A. Taniguchi, K. Kaneko, S. Fujimori   +4 more
semanticscholar   +4 more sources

Role of hypoxanthine-guanine phosphoribosyltransferase in the metabolism of fairy chemicals in rice.

Organic and biomolecular chemistry, 2023
Fairy chemicals (FCs), 2-azahypoxanthine (AHX), imidazole-4-carboxamide (ICA), and 2-aza-8-oxohypoxanthine (AOH), are molecules with many diverse functions in plants. The defined biosynthetic pathway for FCs is a novel purine metabolism in which they are
Hirohide Takemura, Jae-Hoon Choi, K. Fushimi, R. Narikawa, Jing Wu, M. Kondo, David C. Nelson, Tomohiro Suzuki, H. Ouchi, M. Inai, Hirofumi Hirai, H. Kawagishi   +11 more
semanticscholar   +1 more source

Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)

Nucleosides, Nucleotides & Nucleic Acids, 2020
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective.
K. Nguyen, R. Naviaux, W. Nyhan
semanticscholar   +1 more source