Lesch-Nyhan syndrome and its pathogenesis: Normal nicotinamide-adenine dinucleotide but reduced ATP concentrations that correlate with reduced poly (ADP-ribose) synthetase activity in HPRT-deficient lymphoblasts-Reference-Cited by-同舟云学术

Lesch-Nyhan syndrome and its pathogenesis: Normal nicotinamide-adenine dinucleotide but reduced ATP concentrations that correlate with reduced poly (ADP-ribose) synthetase activity in HPRT-deficient lymphoblasts

Published:1995-11 Issue:6 Volume:18 Page:737-747
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

McCreanor G. M.,Harkness R. A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF02436765

Reference66 articles.

1. Ansell JD, Samuel K, Whittingham DG, et al (1991) Hypoxanthine phosphoribosyltransferase deficiency, haematopoiesis and fertility in the mouse.Development 112: 48–498.

2. Atkinson DE (1977)Cellular Energy Metabolism and Its Regulation. New York: Academic Press.

3. Barankiewicz J, Gelfond EW, Issekutz A, Cohen A (1982) Evidence for active purine nucleoside cycles in human mononuclear cells and cultured fibroblasts.J Biol Chem 257: 11597–11600.

4. Bender DA, Magboul BI, Wynick D (1982) Probable mechanisms of regulation of utilization of dietary tryptophan, nicotanamide and nicotinic acid as precursors of nicotinamide nucleotides in the rat.Br J Nutr 48: 119–127.

5. Berger NA, Weber G, Kaichi AS (1978) Characterisation and comparison of poly(ADP-ribose) synthesis and DNA synthesis in nucleotide permeable cells.Biochim Biophys Acta 519: 87–104.

Cited by 16 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lesch-Nyhan disease: A rare disorder with many unresolved aspects;Medical University;2018-10-03

2. Nucleotide Salvage Deficiencies, DNA Damage and Neurodegeneration;International Journal of Molecular Sciences;2015-04-27

3. New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients;Orphanet Journal of Rare Diseases;2015-01-23

4. Neurological Disorders of Purine and Pyrimidine Metabolism;Current Topics in Medicinal Chemistry;2011-04-01

5. Consequences of impaired purine recycling in dopaminergic neurons;Neuroscience;2008-03