Metabolic basis for disorders of purine nucleotide degradation

IH Fox - Metabolism, 1981 - Elsevier
Purine nucleotide degradation refers to a regulated series of reactions by which human
purine ribonucleotides and deoxyribonucleotides are degraded to uric acid in humans. Two …

[PDF][PDF] Metabolism of purine & pyrimidine nucleotides

VW Rodwell - a LANGE medical book, 2003 - academia.edu
The biosynthesis of purines and pyrimidines is stringently regulated and coordinated by
feedback mechanisms that ensure their production in quantities and at times appropriate to …

Disorders of purine and pyrimidine metabolism

WL Nyhan - Molecular genetics and metabolism, 2005 - Elsevier
The disorders of purine and pyrimidine metabolism are unusual in their variety of clinical
presentations and in the mechanisms by which these presentations result from the …

Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man

R CURTO, OE VOIT, M CASCANTE - Biochemical Journal, 1998 - portlandpress.com
A modelling approach is used to analyse diseases associated with purine metabolism in
man. The specific focus is on deficiencies in two enzymes, hypoxanthine: guanine …

Inborn errors of purine metabolism: clinical update and therapies

S Balasubramaniam, JA Duley… - Journal of inherited …, 2014 - Springer
Inborn errors of purine metabolism exhibit broad neurological, immunological,
haematological and renal manifestations. Limited awareness of the phenotypic spectrum …

Emerging role of purine metabolizing enzymes in brain function and tumors

M Garcia-Gil, M Camici, S Allegrini, R Pesi… - International journal of …, 2018 - mdpi.com
The growing evidence of the involvement of purine compounds in signaling, of nucleotide
imbalance in tumorigenesis, the discovery of purinosome and its regulation, cast new light …

[HTML][HTML] Regulation of uric acid metabolism and excretion

J Maiuolo, F Oppedisano, S Gratteri, C Muscoli… - International journal of …, 2016 - Elsevier
Purines perform many important functions in the cell, being the formation of the monomeric
precursors of nucleic acids DNA and RNA the most relevant one. Purines which also …

Purine metabolism dysfunctions: experimental methods of detection and diagnostic potential

AFG Cicero, F Fogacci, V Di Micoli, C Angeloni… - International Journal of …, 2023 - mdpi.com
Purines, such as adenine and guanine, perform several important functions in the cell. They
are found in nucleic acids; are structural components of some coenzymes, including NADH …

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 …

Disorders of purine biosynthesis metabolism

JP Dewulf, S Marie, MC Nassogne - Molecular genetics and metabolism, 2022 - Elsevier
Purines are essential molecules that are components of vital biomolecules, such as nucleic
acids, coenzymes, signaling molecules, as well as energy transfer molecules. The de novo …