Matches in SemOpenAlex for { <https://semopenalex.org/work/W2051222964> ?p ?o ?g. }
- W2051222964 endingPage "101" @default.
- W2051222964 startingPage "89" @default.
- W2051222964 abstract "Most of the metabolic needs of erythrocytes are covered by glycolysis, the oxidative pentose phosphate pathway and the glutathione cycle. Hereditary enzyme deficiencies of all these pathways have been identified, among which glucose-6-phosphate isomerase (GPI) deficiency is the second most frequent erythroenzymopathy in glycolysis, being associated with non-spherocytic haemolytic anaemia of variable severity. This autosomal recessive genetic disorder may be associated in some cases with neurological impairment. GPI is a dimeric enzyme that catalyses the reversible interconversion of fructose-6-phosphate and glucose-6-phosphate. Virtually all the mutant gene products reported are characterized by marked instability and normal substrate affinities, but altered catalytic activity and electrophoretic migration rates. At the nucleotide level, 29 mutations have been reported. This chapter reviews (a) the clinical pattern of the condition; (b) biochemical and molecular studies; (c) structure-function relationships; (d) the molecular basis of neurological dysfunctions sometimes associated with GPI deficiency; and (e) the correlation between the severity of the anaemia and the molecular defect." @default.
- W2051222964 created "2016-06-24" @default.
- W2051222964 creator A5005462892 @default.
- W2051222964 creator A5082803250 @default.
- W2051222964 date "2000-03-01" @default.
- W2051222964 modified "2023-10-18" @default.
- W2051222964 title "Glucose-6-phosphate isomerase deficiency" @default.
- W2051222964 cites W14950802 @default.
- W2051222964 cites W1944359762 @default.
- W2051222964 cites W1970936860 @default.
- W2051222964 cites W1973803724 @default.
- W2051222964 cites W1973942466 @default.
- W2051222964 cites W1982118513 @default.
- W2051222964 cites W1984670390 @default.
- W2051222964 cites W1991167955 @default.
- W2051222964 cites W1993923385 @default.
- W2051222964 cites W1994333406 @default.
- W2051222964 cites W1997146539 @default.
- W2051222964 cites W1999074609 @default.
- W2051222964 cites W2001695367 @default.
- W2051222964 cites W2004637308 @default.
- W2051222964 cites W2007707744 @default.
- W2051222964 cites W2009900343 @default.
- W2051222964 cites W2016958512 @default.
- W2051222964 cites W2018575514 @default.
- W2051222964 cites W2021140911 @default.
- W2051222964 cites W2022372214 @default.
- W2051222964 cites W2035259951 @default.
- W2051222964 cites W2035283645 @default.
- W2051222964 cites W2036584783 @default.
- W2051222964 cites W2049216498 @default.
- W2051222964 cites W2053439316 @default.
- W2051222964 cites W2062345761 @default.
- W2051222964 cites W2067469548 @default.
- W2051222964 cites W2069694136 @default.
- W2051222964 cites W2070827102 @default.
- W2051222964 cites W2074596230 @default.
- W2051222964 cites W2074710036 @default.
- W2051222964 cites W2075356036 @default.
- W2051222964 cites W2079119635 @default.
- W2051222964 cites W2079750805 @default.
- W2051222964 cites W2079818991 @default.
- W2051222964 cites W2090551173 @default.
- W2051222964 cites W2098444945 @default.
- W2051222964 cites W2112001822 @default.
- W2051222964 cites W2122604617 @default.
- W2051222964 cites W2160072809 @default.
- W2051222964 cites W2160992291 @default.
- W2051222964 cites W2165305551 @default.
- W2051222964 cites W2324527909 @default.
- W2051222964 cites W2340035579 @default.
- W2051222964 cites W2346263423 @default.
- W2051222964 cites W2403030213 @default.
- W2051222964 cites W2417532218 @default.
- W2051222964 cites W324295325 @default.
- W2051222964 cites W338199551 @default.
- W2051222964 cites W9932732 @default.
- W2051222964 doi "https://doi.org/10.1053/beha.1999.0059" @default.
- W2051222964 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10916680" @default.
- W2051222964 hasPublicationYear "2000" @default.
- W2051222964 type Work @default.
- W2051222964 sameAs 2051222964 @default.
- W2051222964 citedByCount "69" @default.
- W2051222964 countsByYear W20512229642012 @default.
- W2051222964 countsByYear W20512229642013 @default.
- W2051222964 countsByYear W20512229642014 @default.
- W2051222964 countsByYear W20512229642015 @default.
- W2051222964 countsByYear W20512229642016 @default.
- W2051222964 countsByYear W20512229642017 @default.
- W2051222964 countsByYear W20512229642018 @default.
- W2051222964 countsByYear W20512229642019 @default.
- W2051222964 countsByYear W20512229642020 @default.
- W2051222964 countsByYear W20512229642021 @default.
- W2051222964 countsByYear W20512229642022 @default.
- W2051222964 countsByYear W20512229642023 @default.
- W2051222964 crossrefType "journal-article" @default.
- W2051222964 hasAuthorship W2051222964A5005462892 @default.
- W2051222964 hasAuthorship W2051222964A5082803250 @default.
- W2051222964 hasConcept C104317684 @default.
- W2051222964 hasConcept C143065580 @default.
- W2051222964 hasConcept C181199279 @default.
- W2051222964 hasConcept C185592680 @default.
- W2051222964 hasConcept C20251656 @default.
- W2051222964 hasConcept C2777790778 @default.
- W2051222964 hasConcept C2778727959 @default.
- W2051222964 hasConcept C2781264208 @default.
- W2051222964 hasConcept C3409486 @default.
- W2051222964 hasConcept C501734568 @default.
- W2051222964 hasConcept C54355233 @default.
- W2051222964 hasConcept C55493867 @default.
- W2051222964 hasConcept C57600042 @default.
- W2051222964 hasConcept C86803240 @default.
- W2051222964 hasConceptScore W2051222964C104317684 @default.
- W2051222964 hasConceptScore W2051222964C143065580 @default.
- W2051222964 hasConceptScore W2051222964C181199279 @default.
- W2051222964 hasConceptScore W2051222964C185592680 @default.
- W2051222964 hasConceptScore W2051222964C20251656 @default.
- W2051222964 hasConceptScore W2051222964C2777790778 @default.