Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
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Metabolic engineering of the purine biosynthetic pathway in Corynebacterium glutamicum results in increased intracellular pool sizes of IMP and hypoxanthine [PDF]
, 2012 Background: Purine nucleotides exhibit various functions in cellular metabolism. Besides serving as building blocks for nucleic acid synthesis, they participate in signaling pathways and energy metabolism.
Barduhn, Tobias +5 more
core +1 more source
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease [PDF]
, 2016 Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides.
AM Geurts +45 more
core +4 more sources
Targeting purine metabolism in ovarian cancer
Journal of Ovarian Research, 2022 Purine, an abundant substrate in organisms, is a critical raw material for cell proliferation and an important factor for immune regulation. The purine de novo pathway and salvage pathway are tightly regulated by multiple enzymes, and dysfunction in ...
Jingchun Liu +7 more
doaj +1 more source
Proteomes of Lactobacillus delbrueckii subsp. bulgaricus LBB.B5 Incubated in Milk at Optimal and Low Temperatures. [PDF]
, 2017 We identified the proteins synthesized by Lactobacillus delbrueckii subsp. bulgaricus strain LBB.B5 in laboratory culture medium (MRS) at 37°C and milk at 37 and 4°C.
Angel Angelov +6 more
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dGTP starvation in Escherichia coli provides new insights into the thymineless-death phenomenon.
PLoS Genetics, 2014 Starvation of cells for the DNA building block dTTP is strikingly lethal (thymineless death, TLD), and this effect is observed in all organisms. The phenomenon, discovered some 60 years ago, is widely used to kill cells in anticancer therapies, but many ...
Mark Itsko, Roel M Schaaper
doaj +1 more source
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Scientific Reports, 2021 Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt).
Diane J. Sutcliffe +12 more
doaj +1 more source
Apoptotic gene expression in neuropathic pain [PDF]
, 2008 Pain initiated or caused by a primary lesion or dysfunction in the nervous system is defined as neuropathic pain. It results from direct injury to nerves in the peripheral or central nervous system and is associated with several clinical symptoms ...
Annalucia Migliozzi +6 more
core +2 more sources
Anatomical Distribution of Nucleoside System in the Human Brain and Implications for Therapy [PDF]
, 2013 Nucleosides have a wide range of physiological and pathophysiological roles in the human brain as modulators of a variety of neural functions. For example, adenosine, inosine, guanosine, and uridine participate in the mechanisms underlying memory ...
Dobolyi, Árpád, Kovács, Zsolt
core +1 more source
AIMS Neuroscience, 2022 A heterozygous Arg393His point mutation at the reactive site of antithrombin (AT) gene causing thrombosis in a Vietnamese patient is reported and named as Arg393His in AT-Hanoi.
Khue Vu Nguyen
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