FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2290729516> ?p ?o ?g. }

• W2290729516 abstract "Abstract Hereditary pyropoikilocytosis (HPP) is a recessively inherited hemolytic anemia characterized by severe poikilocytosis and red blood cell fragmentation. HPP red blood cells are partially deficient in spectrin and contain a mutant alpha or beta-spectrin that is defective in terms of spectrin self-association. Although the nature of the latter defect has been studied in considerable detail and many mutations of alpha-spectrin and beta spectrin have been identified, the molecular basis of spectrin deficiency is unknown. Here we report two mechanisms underlying spectrin deficiency in HPP. The first mechanism involves a thalassemia-like defect characterized by a reduced synthesis of alpha-spectrin as shown by studies involving synthesis of spectrin in two unrelated HPP probands and their parents: One parent carries the elliptocytogenic spectrin mutation, whereas the other parent is fully asymptomatic. Peripheral blood mononuclear cells as a source of erythroid burst-forming unit (BFUe) were cultured in a two-phase liquid culture system that gives rise to terminally differentiated erythroblasts. Pulse-labeling studies of an equal number of erythroblasts or morphologically identical maturity showed that the synthesis of alpha-spectrin as well as the mRNA levels as measured by the competitive polymerase chain reaction (PCR) method are markedly reduced in the presumed asymptomatic carriers and the HPP probands. In contrast, the synthesis and mRNA levels of beta-spectrin were normal. These results constitute a direct demonstration of an alpha-spectrin synthetic defect in a subset of asymptomatic carriers of HPP and HPP probands. The second mechanism underlying spectrin deficiency involves increased degradation of mutant spectrin before its assembly on the membrane. This is evidenced by pulse labeling studies of erythroblasts from a patient with HPP associated with a homozygous state for spectrin alpha I/46 mutation (leu-pro mutation at AA 207 of alpha-spectrin). These studies showed that although spectrin is synthesized in the cytosol in normal amounts, the rate of turnover of alpha-spectrin is faster resulting in about 40% to 50% reduced assembly of alpha-spectrin and beta-spectrin on the membrane. Thus, spectrin deficiency in this case is at least in part caused by increased susceptibility of the mutant spectrin to degradation before its assembly on the membrane. We conclude that at least two separate mechanisms underlie the molecular basis of spectrin deficiency in HPP." @default.
• W2290729516 created "2016-06-24" @default.
• W2290729516 creator A5002791925 @default.
• W2290729516 creator A5015469728 @default.
• W2290729516 creator A5046789311 @default.
• W2290729516 creator A5047494261 @default.
• W2290729516 creator A5061672499 @default.
• W2290729516 creator A5084143877 @default.
• W2290729516 date "1993-09-01" @default.
• W2290729516 modified "2023-09-28" @default.
• W2290729516 title "Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis" @default.
• W2290729516 cites W132875182 @default.
• W2290729516 cites W1516165231 @default.
• W2290729516 cites W1542522931 @default.
• W2290729516 cites W1601097851 @default.
• W2290729516 cites W1788944262 @default.
• W2290729516 cites W1971961144 @default.
• W2290729516 cites W1975376384 @default.
• W2290729516 cites W1978460514 @default.
• W2290729516 cites W1983247408 @default.
• W2290729516 cites W1991619600 @default.
• W2290729516 cites W1992682995 @default.
• W2290729516 cites W1996027687 @default.
• W2290729516 cites W2011196330 @default.
• W2290729516 cites W2018255257 @default.
• W2290729516 cites W2028309813 @default.
• W2290729516 cites W2037268137 @default.
• W2290729516 cites W2039820478 @default.
• W2290729516 cites W2063277701 @default.
• W2290729516 cites W2144634347 @default.
• W2290729516 cites W2150313140 @default.
• W2290729516 cites W2156525221 @default.
• W2290729516 cites W2158330838 @default.
• W2290729516 cites W2219027805 @default.
• W2290729516 cites W2223046342 @default.
• W2290729516 cites W2279649183 @default.
• W2290729516 cites W2346561167 @default.
• W2290729516 cites W2395917550 @default.
• W2290729516 cites W2413606688 @default.
• W2290729516 cites W2415271477 @default.
• W2290729516 cites W244544457 @default.
• W2290729516 cites W279794323 @default.
• W2290729516 cites W3110945873 @default.
• W2290729516 doi "https://doi.org/10.1182/blood.v82.5.1652.1652" @default.
• W2290729516 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8364214" @default.
• W2290729516 hasPublicationYear "1993" @default.
• W2290729516 type Work @default.
• W2290729516 sameAs 2290729516 @default.
• W2290729516 citedByCount "32" @default.
• W2290729516 countsByYear W22907295162013 @default.
• W2290729516 countsByYear W22907295162016 @default.
• W2290729516 countsByYear W22907295162018 @default.
• W2290729516 countsByYear W22907295162019 @default.
• W2290729516 countsByYear W22907295162020 @default.
• W2290729516 countsByYear W22907295162021 @default.
• W2290729516 crossrefType "journal-article" @default.
• W2290729516 hasAuthorship W2290729516A5002791925 @default.
• W2290729516 hasAuthorship W2290729516A5015469728 @default.
• W2290729516 hasAuthorship W2290729516A5046789311 @default.
• W2290729516 hasAuthorship W2290729516A5047494261 @default.
• W2290729516 hasAuthorship W2290729516A5061672499 @default.
• W2290729516 hasAuthorship W2290729516A5084143877 @default.
• W2290729516 hasBestOaLocation W22907295161 @default.
• W2290729516 hasConcept C104317684 @default.
• W2290729516 hasConcept C142669718 @default.
• W2290729516 hasConcept C143065580 @default.
• W2290729516 hasConcept C1491633281 @default.
• W2290729516 hasConcept C153911025 @default.
• W2290729516 hasConcept C185592680 @default.
• W2290729516 hasConcept C188997412 @default.
• W2290729516 hasConcept C203014093 @default.
• W2290729516 hasConcept C2776175824 @default.
• W2290729516 hasConcept C501734568 @default.
• W2290729516 hasConcept C50244902 @default.
• W2290729516 hasConcept C54355233 @default.
• W2290729516 hasConcept C74966100 @default.
• W2290729516 hasConcept C86803240 @default.
• W2290729516 hasConceptScore W2290729516C104317684 @default.
• W2290729516 hasConceptScore W2290729516C142669718 @default.
• W2290729516 hasConceptScore W2290729516C143065580 @default.
• W2290729516 hasConceptScore W2290729516C1491633281 @default.
• W2290729516 hasConceptScore W2290729516C153911025 @default.
• W2290729516 hasConceptScore W2290729516C185592680 @default.
• W2290729516 hasConceptScore W2290729516C188997412 @default.
• W2290729516 hasConceptScore W2290729516C203014093 @default.
• W2290729516 hasConceptScore W2290729516C2776175824 @default.
• W2290729516 hasConceptScore W2290729516C501734568 @default.
• W2290729516 hasConceptScore W2290729516C50244902 @default.
• W2290729516 hasConceptScore W2290729516C54355233 @default.
• W2290729516 hasConceptScore W2290729516C74966100 @default.
• W2290729516 hasConceptScore W2290729516C86803240 @default.
• W2290729516 hasLocation W22907295161 @default.
• W2290729516 hasOpenAccess W2290729516 @default.
• W2290729516 hasPrimaryLocation W22907295161 @default.
• W2290729516 hasRelatedWork W1512510903 @default.
• W2290729516 hasRelatedWork W1528238804 @default.
• W2290729516 hasRelatedWork W1542522931 @default.
• W2290729516 hasRelatedWork W1553302278 @default.
• W2290729516 hasRelatedWork W1601274512 @default.
• W2290729516 hasRelatedWork W1975376384 @default.

• next