FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055348534> ?p ?o ?g. }

• W2055348534 endingPage "1307" @default.
• W2055348534 startingPage "1300" @default.
• W2055348534 abstract "2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency is a novel inborn error of isoleucine degradation. In this article, we report the elucidation of the molecular basis of MHBD deficiency. To this end, we purified the enzyme from bovine liver. MALDI-TOF mass spectrometry analysis revealed that the purified protein was identical to bovine 3-hydroxyacyl-CoA dehydrogenase type II. The human homolog of this bovine enzyme is a short-chain 3-hydroxyacyl-CoA dehydrogenase, also known as the endoplasmic reticulum-associated amyloid-beta binding protein (ERAB). This led to the identification of the X-chromosomal gene involved, which previously had been denoted HADH2. Sequence analysis of the HADH2 gene from patients with MHBD deficiency revealed the presence of two missense mutations (R130C and L122V). Heterologous expression of the mutant cDNAs in Escherichia coli showed that both mutations almost completely abolish enzyme activity. This confirms that MHBD deficiency is caused by mutations in the HADH2 gene." @default.
• W2055348534 created "2016-06-24" @default.
• W2055348534 creator A5039938217 @default.
• W2055348534 creator A5040743356 @default.
• W2055348534 creator A5040790993 @default.
• W2055348534 creator A5047589847 @default.
• W2055348534 creator A5052370546 @default.
• W2055348534 creator A5064088253 @default.
• W2055348534 creator A5067775422 @default.
• W2055348534 creator A5083536400 @default.
• W2055348534 creator A5086620509 @default.
• W2055348534 creator A5087611764 @default.
• W2055348534 creator A5089553930 @default.
• W2055348534 date "2003-05-01" @default.
• W2055348534 modified "2023-10-17" @default.
• W2055348534 title "2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene" @default.
• W2055348534 cites W1934325817 @default.
• W2055348534 cites W1973618891 @default.
• W2055348534 cites W1987124049 @default.
• W2055348534 cites W1988814356 @default.
• W2055348534 cites W2001137797 @default.
• W2055348534 cites W2018289835 @default.
• W2055348534 cites W2034746803 @default.
• W2055348534 cites W2036506796 @default.
• W2055348534 cites W2038207656 @default.
• W2055348534 cites W2043763836 @default.
• W2055348534 cites W2050227546 @default.
• W2055348534 cites W2055115846 @default.
• W2055348534 cites W2056888934 @default.
• W2055348534 cites W2064631478 @default.
• W2055348534 cites W2077017147 @default.
• W2055348534 cites W2078594804 @default.
• W2055348534 cites W2091579589 @default.
• W2055348534 cites W2100837269 @default.
• W2055348534 cites W2109795712 @default.
• W2055348534 cites W2117037463 @default.
• W2055348534 cites W2128635872 @default.
• W2055348534 cites W2133662632 @default.
• W2055348534 cites W2138765938 @default.
• W2055348534 cites W2147457396 @default.
• W2055348534 cites W2156380818 @default.
• W2055348534 cites W2158316460 @default.
• W2055348534 cites W4293247451 @default.
• W2055348534 doi "https://doi.org/10.1086/375116" @default.
• W2055348534 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1180283" @default.
• W2055348534 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12696021" @default.
• W2055348534 hasPublicationYear "2003" @default.
• W2055348534 type Work @default.
• W2055348534 sameAs 2055348534 @default.
• W2055348534 citedByCount "107" @default.
• W2055348534 countsByYear W20553485342012 @default.
• W2055348534 countsByYear W20553485342013 @default.
• W2055348534 countsByYear W20553485342014 @default.
• W2055348534 countsByYear W20553485342015 @default.
• W2055348534 countsByYear W20553485342016 @default.
• W2055348534 countsByYear W20553485342017 @default.
• W2055348534 countsByYear W20553485342018 @default.
• W2055348534 countsByYear W20553485342019 @default.
• W2055348534 countsByYear W20553485342020 @default.
• W2055348534 countsByYear W20553485342021 @default.
• W2055348534 countsByYear W20553485342022 @default.
• W2055348534 countsByYear W20553485342023 @default.
• W2055348534 crossrefType "journal-article" @default.
• W2055348534 hasAuthorship W2055348534A5039938217 @default.
• W2055348534 hasAuthorship W2055348534A5040743356 @default.
• W2055348534 hasAuthorship W2055348534A5040790993 @default.
• W2055348534 hasAuthorship W2055348534A5047589847 @default.
• W2055348534 hasAuthorship W2055348534A5052370546 @default.
• W2055348534 hasAuthorship W2055348534A5064088253 @default.
• W2055348534 hasAuthorship W2055348534A5067775422 @default.
• W2055348534 hasAuthorship W2055348534A5083536400 @default.
• W2055348534 hasAuthorship W2055348534A5086620509 @default.
• W2055348534 hasAuthorship W2055348534A5087611764 @default.
• W2055348534 hasAuthorship W2055348534A5089553930 @default.
• W2055348534 hasBestOaLocation W20553485341 @default.
• W2055348534 hasConcept C104317684 @default.
• W2055348534 hasConcept C143065580 @default.
• W2055348534 hasConcept C153911025 @default.
• W2055348534 hasConcept C181199279 @default.
• W2055348534 hasConcept C2776317432 @default.
• W2055348534 hasConcept C2779926675 @default.
• W2055348534 hasConcept C501734568 @default.
• W2055348534 hasConcept C54355233 @default.
• W2055348534 hasConcept C547475151 @default.
• W2055348534 hasConcept C55493867 @default.
• W2055348534 hasConcept C75563809 @default.
• W2055348534 hasConcept C86803240 @default.
• W2055348534 hasConceptScore W2055348534C104317684 @default.
• W2055348534 hasConceptScore W2055348534C143065580 @default.
• W2055348534 hasConceptScore W2055348534C153911025 @default.
• W2055348534 hasConceptScore W2055348534C181199279 @default.
• W2055348534 hasConceptScore W2055348534C2776317432 @default.
• W2055348534 hasConceptScore W2055348534C2779926675 @default.
• W2055348534 hasConceptScore W2055348534C501734568 @default.
• W2055348534 hasConceptScore W2055348534C54355233 @default.
• W2055348534 hasConceptScore W2055348534C547475151 @default.
• W2055348534 hasConceptScore W2055348534C55493867 @default.
• W2055348534 hasConceptScore W2055348534C75563809 @default.

• next