Matches in SemOpenAlex for { <https://semopenalex.org/work/W2060361566> ?p ?o ?g. }
- W2060361566 endingPage "42" @default.
- W2060361566 startingPage "36" @default.
- W2060361566 abstract "The HSD17B10 gene maps on chromosome Xp11.2, a region highly associated with X-linked mental retardation. This gene encodes HSD10, a mitochondrial multifunctional enzyme that plays a significant part in the metabolism of neuroactive steroids and the degradation of isoleucine. The HSD17B10 gene is composed of six exons and five introns. Its exon 5 is an alternative exon such that there are several HSD17B10 mRNA isoforms in brain. A silent mutation (c.605C-->A) and three missense mutations (c.395C-->G; c.419C-->T; c.771A-->G), respectively, cause the X-linked mental retardation, choreoathetosis, and abnormal behavior (MRXS10) and the hydroxyacyl-CoA dehydrogenase II deficiency. The latter condition seems to be a multifactorial disease due to the disturbance of more than one metabolic pathway by the HSD10 deficiency. HSD10 inactivates the positive modulators of GABAA receptors, and plays a role in the maintenance of GABAergic neuronal function. This working model may account for the mental retardation of these patients. The dehydrogenase activity is slightly inhibited by the binding of amyloid-beta peptide to the loop D of HSD10. Elevated levels of HSD10 were observed in hippocampi of Alzheimer disease patients so this multifunctional enzyme may be related to Alzheimer disease pathogenesis; however, the molecular mechanism of its involvement remains to be ascertained." @default.
- W2060361566 created "2016-06-24" @default.
- W2060361566 creator A5024216177 @default.
- W2060361566 creator A5040113503 @default.
- W2060361566 creator A5073836666 @default.
- W2060361566 date "2007-09-01" @default.
- W2060361566 modified "2023-09-26" @default.
- W2060361566 title "HSD17B10: A gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids" @default.
- W2060361566 cites W1485838909 @default.
- W2060361566 cites W1537851232 @default.
- W2060361566 cites W1579505662 @default.
- W2060361566 cites W183879881 @default.
- W2060361566 cites W1849836964 @default.
- W2060361566 cites W1932154717 @default.
- W2060361566 cites W1963821249 @default.
- W2060361566 cites W1969547229 @default.
- W2060361566 cites W1973618891 @default.
- W2060361566 cites W1980214458 @default.
- W2060361566 cites W1986826429 @default.
- W2060361566 cites W1988829155 @default.
- W2060361566 cites W1993558908 @default.
- W2060361566 cites W1994320218 @default.
- W2060361566 cites W1997747839 @default.
- W2060361566 cites W2003744351 @default.
- W2060361566 cites W2014024536 @default.
- W2060361566 cites W2016214527 @default.
- W2060361566 cites W2017227716 @default.
- W2060361566 cites W2020502163 @default.
- W2060361566 cites W2020958409 @default.
- W2060361566 cites W2022574700 @default.
- W2060361566 cites W2025820981 @default.
- W2060361566 cites W2030564045 @default.
- W2060361566 cites W2035719433 @default.
- W2060361566 cites W2036506796 @default.
- W2060361566 cites W2039615989 @default.
- W2060361566 cites W2043763836 @default.
- W2060361566 cites W2051456134 @default.
- W2060361566 cites W2055115846 @default.
- W2060361566 cites W2055348534 @default.
- W2060361566 cites W2056888934 @default.
- W2060361566 cites W2063318299 @default.
- W2060361566 cites W2076520303 @default.
- W2060361566 cites W2076793571 @default.
- W2060361566 cites W2077017147 @default.
- W2060361566 cites W2081027814 @default.
- W2060361566 cites W2090085493 @default.
- W2060361566 cites W2091085285 @default.
- W2060361566 cites W2091359155 @default.
- W2060361566 cites W2091579589 @default.
- W2060361566 cites W2100240547 @default.
- W2060361566 cites W2101944201 @default.
- W2060361566 cites W2104808376 @default.
- W2060361566 cites W2105670751 @default.
- W2060361566 cites W2113144359 @default.
- W2060361566 cites W2117037463 @default.
- W2060361566 cites W2123093073 @default.
- W2060361566 cites W2128778630 @default.
- W2060361566 cites W2134052811 @default.
- W2060361566 cites W2137518425 @default.
- W2060361566 cites W2138765938 @default.
- W2060361566 cites W2146039550 @default.
- W2060361566 cites W2154155981 @default.
- W2060361566 cites W2163757074 @default.
- W2060361566 cites W4250729237 @default.
- W2060361566 cites W4251886643 @default.
- W2060361566 cites W4255440993 @default.
- W2060361566 cites W448192093 @default.
- W2060361566 doi "https://doi.org/10.1016/j.ymgme.2007.06.001" @default.
- W2060361566 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17618155" @default.
- W2060361566 hasPublicationYear "2007" @default.
- W2060361566 type Work @default.
- W2060361566 sameAs 2060361566 @default.
- W2060361566 citedByCount "62" @default.
- W2060361566 countsByYear W20603615662012 @default.
- W2060361566 countsByYear W20603615662013 @default.
- W2060361566 countsByYear W20603615662014 @default.
- W2060361566 countsByYear W20603615662015 @default.
- W2060361566 countsByYear W20603615662016 @default.
- W2060361566 countsByYear W20603615662017 @default.
- W2060361566 countsByYear W20603615662018 @default.
- W2060361566 countsByYear W20603615662019 @default.
- W2060361566 countsByYear W20603615662020 @default.
- W2060361566 countsByYear W20603615662021 @default.
- W2060361566 countsByYear W20603615662022 @default.
- W2060361566 countsByYear W20603615662023 @default.
- W2060361566 crossrefType "journal-article" @default.
- W2060361566 hasAuthorship W2060361566A5024216177 @default.
- W2060361566 hasAuthorship W2060361566A5040113503 @default.
- W2060361566 hasAuthorship W2060361566A5073836666 @default.
- W2060361566 hasConcept C104317684 @default.
- W2060361566 hasConcept C126322002 @default.
- W2060361566 hasConcept C134018914 @default.
- W2060361566 hasConcept C168258287 @default.
- W2060361566 hasConcept C170493617 @default.
- W2060361566 hasConcept C36823959 @default.
- W2060361566 hasConcept C44796713 @default.
- W2060361566 hasConcept C501734568 @default.
- W2060361566 hasConcept C54355233 @default.