FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2987701831> ?p ?o ?g. }

• W2987701831 endingPage "24" @default.
• W2987701831 startingPage "14" @default.
• W2987701831 abstract "It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side-products. Recent work indicates that this statement is not entirely correct. In reality, enzymes are not strictly specific, they often display weak side activities on intracellular metabolites (substrate promiscuity) that resemble their physiological substrate or slowly catalyse abnormal reactions on their physiological substrate (catalytic promiscuity). They thereby produce non-classical metabolites that are not efficiently metabolised by conventional enzymes. In an increasing number of cases, metabolite repair enzymes are being discovered that serve to eliminate these non-classical metabolites and prevent their accumulation. Metabolite repair enzymes also eliminate non-classical metabolites that are formed through spontaneous (ie, not enzyme-catalysed) reactions. Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutropenia present in Glycogen Storage Disease type Ib or defects in the enzymes that repair the hydrated forms of NADH or NADPH. Metabolite repair defects may be difficult to identify as such, because the mutated enzymes are non-classical enzymes that act on non-classical metabolites, which in some cases accumulate only inside the cells, and at rather low, yet toxic, concentrations. It is therefore likely that many additional metabolite repair enzymes remain to be discovered and that many diseases of metabolite repair still await elucidation." @default.
• W2987701831 created "2019-11-22" @default.
• W2987701831 creator A5003824473 @default.
• W2987701831 creator A5028909272 @default.
• W2987701831 creator A5038140022 @default.
• W2987701831 date "2019-12-29" @default.
• W2987701831 modified "2023-10-17" @default.
• W2987701831 title "Inborn errors of metabolite repair" @default.
• W2987701831 cites W1035245405 @default.
• W2987701831 cites W135566796 @default.
• W2987701831 cites W13653301 @default.
• W2987701831 cites W1487248435 @default.
• W2987701831 cites W1614353075 @default.
• W2987701831 cites W1718065310 @default.
• W2987701831 cites W1916910865 @default.
• W2987701831 cites W1967447913 @default.
• W2987701831 cites W1967945049 @default.
• W2987701831 cites W1974547091 @default.
• W2987701831 cites W1979514665 @default.
• W2987701831 cites W1982548908 @default.
• W2987701831 cites W1987724491 @default.
• W2987701831 cites W1995144794 @default.
• W2987701831 cites W1995675594 @default.
• W2987701831 cites W1997416342 @default.
• W2987701831 cites W2001479779 @default.
• W2987701831 cites W2009559888 @default.
• W2987701831 cites W2009767122 @default.
• W2987701831 cites W2015755329 @default.
• W2987701831 cites W2015978398 @default.
• W2987701831 cites W2019065980 @default.
• W2987701831 cites W2024886920 @default.
• W2987701831 cites W2036083342 @default.
• W2987701831 cites W2039811582 @default.
• W2987701831 cites W2048080935 @default.
• W2987701831 cites W2049334522 @default.
• W2987701831 cites W2058747828 @default.
• W2987701831 cites W2064848673 @default.
• W2987701831 cites W2070048422 @default.
• W2987701831 cites W2076515505 @default.
• W2987701831 cites W2077061494 @default.
• W2987701831 cites W2077675998 @default.
• W2987701831 cites W2080452140 @default.
• W2987701831 cites W2088699924 @default.
• W2987701831 cites W2100208786 @default.
• W2987701831 cites W2101455704 @default.
• W2987701831 cites W2111565594 @default.
• W2987701831 cites W2124607405 @default.
• W2987701831 cites W2128312954 @default.
• W2987701831 cites W2128642499 @default.
• W2987701831 cites W2131860315 @default.
• W2987701831 cites W2138453362 @default.
• W2987701831 cites W2151593963 @default.
• W2987701831 cites W2168656281 @default.
• W2987701831 cites W2170435542 @default.
• W2987701831 cites W2337672766 @default.
• W2987701831 cites W2344926881 @default.
• W2987701831 cites W2438481482 @default.
• W2987701831 cites W2464879055 @default.
• W2987701831 cites W2511939497 @default.
• W2987701831 cites W2520649374 @default.
• W2987701831 cites W2604703978 @default.
• W2987701831 cites W2618264321 @default.
• W2987701831 cites W2898587535 @default.
• W2987701831 cites W2906086412 @default.
• W2987701831 cites W2909738842 @default.
• W2987701831 cites W2911603486 @default.
• W2987701831 cites W2936325242 @default.
• W2987701831 cites W2952204176 @default.
• W2987701831 cites W2971139914 @default.
• W2987701831 cites W4244684460 @default.
• W2987701831 cites W956643264 @default.
• W2987701831 doi "https://doi.org/10.1002/jimd.12187" @default.
• W2987701831 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7041631" @default.
• W2987701831 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31691304" @default.
• W2987701831 hasPublicationYear "2019" @default.
• W2987701831 type Work @default.
• W2987701831 sameAs 2987701831 @default.
• W2987701831 citedByCount "27" @default.
• W2987701831 countsByYear W29877018312020 @default.
• W2987701831 countsByYear W29877018312021 @default.
• W2987701831 countsByYear W29877018312022 @default.
• W2987701831 countsByYear W29877018312023 @default.
• W2987701831 crossrefType "journal-article" @default.
• W2987701831 hasAuthorship W2987701831A5003824473 @default.
• W2987701831 hasAuthorship W2987701831A5028909272 @default.
• W2987701831 hasAuthorship W2987701831A5038140022 @default.
• W2987701831 hasBestOaLocation W29877018311 @default.
• W2987701831 hasConcept C104317684 @default.
• W2987701831 hasConcept C126322002 @default.
• W2987701831 hasConcept C2777477808 @default.
• W2987701831 hasConcept C41008148 @default.
• W2987701831 hasConcept C47042493 @default.
• W2987701831 hasConcept C54355233 @default.
• W2987701831 hasConcept C60644358 @default.
• W2987701831 hasConcept C70721500 @default.
• W2987701831 hasConcept C71924100 @default.
• W2987701831 hasConcept C86803240 @default.
• W2987701831 hasConceptScore W2987701831C104317684 @default.

• next