FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2065884921> ?p ?o ?g. }

• W2065884921 endingPage "473" @default.
• W2065884921 startingPage "468" @default.
• W2065884921 abstract "Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme α-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. The accumulation of unhydrolyzed glycosaminoglycans leads to pathogenesis in multiple tissue types, especially those of skeletal, nervous, respiratory, cardiovascular, and gastrointestinal origin. Although molecular diagnostic tools for MPSI have been available since the identification and characterization of the IDUA gene in 1992, Colombia, Ecuador, and Peru have lacked such methodologies. Therefore, the mutational profile of the IDUA gene in these countries has largely been unknown. The goal of this study was to characterize genotypes in 14 patients with MPSI from Colombia, Ecuador, and Peru. The most common mutation found at a frequency of 42.8% was W402X. Six patients presented with seven novel mutations, a high novel mutational rate in this population (32%). These novel mutations were validated using bioinformatic techniques. A model of the IDUA protein resulting from three of the novel missense mutations (Y625C, P385L, R621L) revealed that these mutations alter accessible surface area values, thereby reducing the accessibility of the enzyme to its substrates. This is the first characterization of the mutational profile of the IDUA gene in patients with MPSI in Colombia, Ecuador, and Peru. The findings contribute to our understanding of IDUA gene expression and IDUA enzyme function, and may help facilitate early and improved diagnosis and management for patients with MPSI." @default.
• W2065884921 created "2016-06-24" @default.
• W2065884921 creator A5005932451 @default.
• W2065884921 creator A5013820563 @default.
• W2065884921 creator A5014083965 @default.
• W2065884921 creator A5021273729 @default.
• W2065884921 creator A5023833032 @default.
• W2065884921 creator A5027837150 @default.
• W2065884921 creator A5037194442 @default.
• W2065884921 creator A5052779584 @default.
• W2065884921 creator A5053214980 @default.
• W2065884921 creator A5058764837 @default.
• W2065884921 creator A5061562222 @default.
• W2065884921 creator A5063251885 @default.
• W2065884921 creator A5068060864 @default.
• W2065884921 creator A5068473328 @default.
• W2065884921 creator A5089786294 @default.
• W2065884921 date "2014-01-01" @default.
• W2065884921 modified "2023-10-02" @default.
• W2065884921 title "Genotypic and bioinformatic evaluation of the alpha- l -iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru" @default.
• W2065884921 cites W11549471 @default.
• W2065884921 cites W1629226911 @default.
• W2065884921 cites W1993587850 @default.
• W2065884921 cites W1993661832 @default.
• W2065884921 cites W2014299538 @default.
• W2065884921 cites W2019269117 @default.
• W2065884921 cites W2025539643 @default.
• W2065884921 cites W2028302753 @default.
• W2065884921 cites W2043754477 @default.
• W2065884921 cites W2047086231 @default.
• W2065884921 cites W2047299569 @default.
• W2065884921 cites W2057594413 @default.
• W2065884921 cites W2059192486 @default.
• W2065884921 cites W2059934840 @default.
• W2065884921 cites W2091204695 @default.
• W2065884921 cites W2100174357 @default.
• W2065884921 cites W2100932567 @default.
• W2065884921 cites W2107430825 @default.
• W2065884921 cites W2123943285 @default.
• W2065884921 cites W2130367237 @default.
• W2065884921 cites W2144315123 @default.
• W2065884921 cites W2145876109 @default.
• W2065884921 cites W2160333904 @default.
• W2065884921 cites W2170051398 @default.
• W2065884921 doi "https://doi.org/10.1016/j.ymgmr.2014.10.001" @default.
• W2065884921 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5121354" @default.
• W2065884921 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27896125" @default.
• W2065884921 hasPublicationYear "2014" @default.
• W2065884921 type Work @default.
• W2065884921 sameAs 2065884921 @default.
• W2065884921 citedByCount "8" @default.
• W2065884921 countsByYear W20658849212014 @default.
• W2065884921 countsByYear W20658849212017 @default.
• W2065884921 countsByYear W20658849212018 @default.
• W2065884921 countsByYear W20658849212019 @default.
• W2065884921 countsByYear W20658849212020 @default.
• W2065884921 countsByYear W20658849212021 @default.
• W2065884921 countsByYear W20658849212023 @default.
• W2065884921 crossrefType "journal-article" @default.
• W2065884921 hasAuthorship W2065884921A5005932451 @default.
• W2065884921 hasAuthorship W2065884921A5013820563 @default.
• W2065884921 hasAuthorship W2065884921A5014083965 @default.
• W2065884921 hasAuthorship W2065884921A5021273729 @default.
• W2065884921 hasAuthorship W2065884921A5023833032 @default.
• W2065884921 hasAuthorship W2065884921A5027837150 @default.
• W2065884921 hasAuthorship W2065884921A5037194442 @default.
• W2065884921 hasAuthorship W2065884921A5052779584 @default.
• W2065884921 hasAuthorship W2065884921A5053214980 @default.
• W2065884921 hasAuthorship W2065884921A5058764837 @default.
• W2065884921 hasAuthorship W2065884921A5061562222 @default.
• W2065884921 hasAuthorship W2065884921A5063251885 @default.
• W2065884921 hasAuthorship W2065884921A5068060864 @default.
• W2065884921 hasAuthorship W2065884921A5068473328 @default.
• W2065884921 hasAuthorship W2065884921A5089786294 @default.
• W2065884921 hasBestOaLocation W20658849211 @default.
• W2065884921 hasConcept C104317684 @default.
• W2065884921 hasConcept C142724271 @default.
• W2065884921 hasConcept C2779134260 @default.
• W2065884921 hasConcept C2779416428 @default.
• W2065884921 hasConcept C2779969927 @default.
• W2065884921 hasConcept C2910509766 @default.
• W2065884921 hasConcept C2910727661 @default.
• W2065884921 hasConcept C501734568 @default.
• W2065884921 hasConcept C54355233 @default.
• W2065884921 hasConcept C55493867 @default.
• W2065884921 hasConcept C71924100 @default.
• W2065884921 hasConcept C75563809 @default.
• W2065884921 hasConcept C86803240 @default.
• W2065884921 hasConceptScore W2065884921C104317684 @default.
• W2065884921 hasConceptScore W2065884921C142724271 @default.
• W2065884921 hasConceptScore W2065884921C2779134260 @default.
• W2065884921 hasConceptScore W2065884921C2779416428 @default.
• W2065884921 hasConceptScore W2065884921C2779969927 @default.
• W2065884921 hasConceptScore W2065884921C2910509766 @default.
• W2065884921 hasConceptScore W2065884921C2910727661 @default.
• W2065884921 hasConceptScore W2065884921C501734568 @default.
• W2065884921 hasConceptScore W2065884921C54355233 @default.
• W2065884921 hasConceptScore W2065884921C55493867 @default.

• next