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In humans, mutations in MYH are associated with increased risk of developing colon polyps and colon cancer. In addition to OGG1 and MYH, human cells contain three additional DNA glycosylases, NEIL1, NEIL2, and NEIL3. These are homologous to bacterial Nei, and their presence likely explains the mild phenotypes of the OGG1 and MYH knockout mice.
A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
Modulating the pyrimidine metabolism pharmacologically has therapeutical uses, and could implement in cancer treatment. [ 10 ] Pyrimidine synthesis inhibitors are used in active moderate to severe rheumatoid arthritis and psoriatic arthritis , as well as in multiple sclerosis .
Pyrimidine (C 4 H 4 N 2; / p ɪ ˈ r ɪ. m ɪ ˌ d iː n, p aɪ ˈ r ɪ. m ɪ ˌ d iː n /) is an aromatic, heterocyclic, organic compound similar to pyridine (C 5 H 5 N). [3] One of the three diazines (six-membered heterocyclics with two nitrogen atoms in the ring), it has nitrogen atoms at positions 1 and 3 in the ring.
It is a base excision repair enzyme specific for pyrimidine dimers. It is then able to cut open the AP site. Another type of repair mechanism that is conserved in humans and other non-mammals is translesion synthesis. Typically, the lesion associated with the pyrimidine dimer blocks cellular machinery from synthesizing past the damaged site.
N-linked glycosylation is a very prevalent form of glycosylation and is important for the folding of many eukaryotic glycoproteins and for cell–cell and cell–extracellular matrix attachment. The N-linked glycosylation process occurs in eukaryotes in the lumen of the endoplasmic reticulum and widely in archaea, but very rarely in bacteria.
pyrimidine analogues – mimic the structure of metabolic pyrimidines, the smaller bases incorporated into DNA as cytosine and thymine. Examples: 5-Fluorouracil, Gemcitabine, and Cytarabine; nucleoside analogues – nucleoside alternatives that consist of a nucleic acid analogue and a sugar. This means these are the same bases as above, but ...
Defects in the orotate phosphoribosyltransferase domain of UMPS cause orotic aciduria in humans, which is a rare hereditary metabolic disease resulting from problems with pyrimidine metabolism. [15] It can lead to megaloblastic anemia and orotic acid crystalluria, which is associated with physical and mental impairments. [ 15 ]