FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2109287531> ?p ?o ?g. }

• W2109287531 endingPage "303" @default.
• W2109287531 startingPage "297" @default.
• W2109287531 abstract "Glucose–galactose malabsorption (GGM) is an autosomal recessive disorder caused by defects in the Na+/glucose cotransporter (SGLT1). Neonates present with severe diarrhea while on any diet containing glucose and/or galactose [1]. This study focuses on a patient of Swiss and Dominican descent. All 15 exons of SGLT1 were screened using single stranded conformational polymorphism analyses, and aberrant PCR products were sequenced. Two missense mutations, Gly318Arg and Ala468Val, were identified. SGLT1 mutants were expressed in Xenopus laevis oocytes for radiotracer uptake, electrophysiological experiments, and Western blotting. Uptakes of [14C]α-methyl-d-glucoside by the mutants were 5% or less than that of wild-type. Two-electrode voltage-clamp experiments confirmed the transport defects, as no noticeable sugar-induced current could be elicited from either mutant [2]. Western blots of cell protein showed levels of each SGLT1 mutant protein comparable to that of wild-type, and that both were core-glycosylated. Presteady-state current measurements indicated an absence of SGLT1 in the plasma membrane. We suggest that the compound heterozygote missense mutations G318R and A468V lead to GGM in this patient by defective trafficking of mutant proteins from the endoplasmic reticulum to the plasma membrane." @default.
• W2109287531 created "2016-06-24" @default.
• W2109287531 creator A5002353458 @default.
• W2109287531 creator A5029078153 @default.
• W2109287531 creator A5033738931 @default.
• W2109287531 creator A5037473371 @default.
• W2109287531 creator A5064270252 @default.
• W2109287531 creator A5081629215 @default.
• W2109287531 creator A5082340702 @default.
• W2109287531 date "1999-02-01" @default.
• W2109287531 modified "2023-09-26" @default.
• W2109287531 title "Missense mutations in SGLT1 cause glucose–galactose malabsorption by trafficking defects" @default.
• W2109287531 cites W189514460 @default.
• W2109287531 cites W1973203775 @default.
• W2109287531 cites W1980832022 @default.
• W2109287531 cites W1981765089 @default.
• W2109287531 cites W1985205653 @default.
• W2109287531 cites W1988293842 @default.
• W2109287531 cites W1996027687 @default.
• W2109287531 cites W1998453182 @default.
• W2109287531 cites W2000080673 @default.
• W2109287531 cites W2008613493 @default.
• W2109287531 cites W2014560547 @default.
• W2109287531 cites W2038492881 @default.
• W2109287531 cites W2040715882 @default.
• W2109287531 cites W2041968714 @default.
• W2109287531 cites W2064039245 @default.
• W2109287531 cites W2075335172 @default.
• W2109287531 cites W2080483966 @default.
• W2109287531 cites W2326679276 @default.
• W2109287531 doi "https://doi.org/10.1016/s0925-4439(98)00109-4" @default.
• W2109287531 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10036327" @default.
• W2109287531 hasPublicationYear "1999" @default.
• W2109287531 type Work @default.
• W2109287531 sameAs 2109287531 @default.
• W2109287531 citedByCount "52" @default.
• W2109287531 countsByYear W21092875312012 @default.
• W2109287531 countsByYear W21092875312013 @default.
• W2109287531 countsByYear W21092875312014 @default.
• W2109287531 countsByYear W21092875312015 @default.
• W2109287531 countsByYear W21092875312016 @default.
• W2109287531 countsByYear W21092875312017 @default.
• W2109287531 countsByYear W21092875312018 @default.
• W2109287531 countsByYear W21092875312019 @default.
• W2109287531 countsByYear W21092875312020 @default.
• W2109287531 countsByYear W21092875312021 @default.
• W2109287531 countsByYear W21092875312022 @default.
• W2109287531 countsByYear W21092875312023 @default.
• W2109287531 crossrefType "journal-article" @default.
• W2109287531 hasAuthorship W2109287531A5002353458 @default.
• W2109287531 hasAuthorship W2109287531A5029078153 @default.
• W2109287531 hasAuthorship W2109287531A5033738931 @default.
• W2109287531 hasAuthorship W2109287531A5037473371 @default.
• W2109287531 hasAuthorship W2109287531A5064270252 @default.
• W2109287531 hasAuthorship W2109287531A5081629215 @default.
• W2109287531 hasAuthorship W2109287531A5082340702 @default.
• W2109287531 hasConcept C104317684 @default.
• W2109287531 hasConcept C12125453 @default.
• W2109287531 hasConcept C134018914 @default.
• W2109287531 hasConcept C143065580 @default.
• W2109287531 hasConcept C153471976 @default.
• W2109287531 hasConcept C153911025 @default.
• W2109287531 hasConcept C161573976 @default.
• W2109287531 hasConcept C180754005 @default.
• W2109287531 hasConcept C207583985 @default.
• W2109287531 hasConcept C2778173381 @default.
• W2109287531 hasConcept C2779306644 @default.
• W2109287531 hasConcept C2779535977 @default.
• W2109287531 hasConcept C2779926675 @default.
• W2109287531 hasConcept C501734568 @default.
• W2109287531 hasConcept C54355233 @default.
• W2109287531 hasConcept C55493867 @default.
• W2109287531 hasConcept C75563809 @default.
• W2109287531 hasConcept C85265743 @default.
• W2109287531 hasConcept C86803240 @default.
• W2109287531 hasConceptScore W2109287531C104317684 @default.
• W2109287531 hasConceptScore W2109287531C12125453 @default.
• W2109287531 hasConceptScore W2109287531C134018914 @default.
• W2109287531 hasConceptScore W2109287531C143065580 @default.
• W2109287531 hasConceptScore W2109287531C153471976 @default.
• W2109287531 hasConceptScore W2109287531C153911025 @default.
• W2109287531 hasConceptScore W2109287531C161573976 @default.
• W2109287531 hasConceptScore W2109287531C180754005 @default.
• W2109287531 hasConceptScore W2109287531C207583985 @default.
• W2109287531 hasConceptScore W2109287531C2778173381 @default.
• W2109287531 hasConceptScore W2109287531C2779306644 @default.
• W2109287531 hasConceptScore W2109287531C2779535977 @default.
• W2109287531 hasConceptScore W2109287531C2779926675 @default.
• W2109287531 hasConceptScore W2109287531C501734568 @default.
• W2109287531 hasConceptScore W2109287531C54355233 @default.
• W2109287531 hasConceptScore W2109287531C55493867 @default.
• W2109287531 hasConceptScore W2109287531C75563809 @default.
• W2109287531 hasConceptScore W2109287531C85265743 @default.
• W2109287531 hasConceptScore W2109287531C86803240 @default.
• W2109287531 hasIssue "2" @default.
• W2109287531 hasLocation W21092875311 @default.
• W2109287531 hasLocation W21092875312 @default.
• W2109287531 hasOpenAccess W2109287531 @default.

• next