Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890561403> ?p ?o ?g. }
- W2890561403 endingPage "1330" @default.
- W2890561403 startingPage "1325" @default.
- W2890561403 abstract "Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased glucocerebrosidase enzymatic activity in PD patients with glucocerebrosidase 1 mutations (glucocerebrosidase 1-PD). However, it is unknown whether this decrease in enzymatic activity leads to lysosphingolipid accumulations.The levels of hexosylsphingosines, globotriaosylsphingosine, sphingomyelin, and sphingomyelin-509 were measured in dried blood spots from glucocerebrosidase 1-PD patients (n = 23), sporadic PD patients (n = 105), Gaucher disease patients (n = 32), and controls (n = 88) by liquid chromatography-tandem mass spectrometry.Glucocerebrosidase 1-PD patients had increased hexosylsphingosine levels when compared with sporadic PD patients (P < .001) and controls (P < .0001). Hexosylsphingosine levels were increased in glucocerebrosidase 1 mutation carriers of glucocerebrosidase 1 (L444P; N370S; n = 11, P = .001) and glucocerebrosidase 1 polymorphic variants (E326K, T369M) associated with PD (n = 12, P = .04) when compared with controls.Lysosphingolipid accumulations in PD patients who bear glucocerebrosidase 1 mutations suggest that substrate reduction therapy might be viewed as a possible strategy for glucocerebrosidase 1-PD treatment. © 2018 International Parkinson and Movement Disorder Society." @default.
- W2890561403 created "2018-09-27" @default.
- W2890561403 creator A5000462209 @default.
- W2890561403 creator A5002529713 @default.
- W2890561403 creator A5006923223 @default.
- W2890561403 creator A5015892594 @default.
- W2890561403 creator A5049639247 @default.
- W2890561403 creator A5050132614 @default.
- W2890561403 creator A5052771533 @default.
- W2890561403 creator A5058908222 @default.
- W2890561403 creator A5068491289 @default.
- W2890561403 creator A5068995106 @default.
- W2890561403 creator A5072352390 @default.
- W2890561403 creator A5073060086 @default.
- W2890561403 creator A5078283527 @default.
- W2890561403 date "2018-08-01" @default.
- W2890561403 modified "2023-10-09" @default.
- W2890561403 title "Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations" @default.
- W2890561403 cites W1558432922 @default.
- W2890561403 cites W1564408941 @default.
- W2890561403 cites W1855414224 @default.
- W2890561403 cites W1969869131 @default.
- W2890561403 cites W1999568824 @default.
- W2890561403 cites W2028245787 @default.
- W2890561403 cites W2031365272 @default.
- W2890561403 cites W2057096264 @default.
- W2890561403 cites W2072840417 @default.
- W2890561403 cites W2074424295 @default.
- W2890561403 cites W2079378641 @default.
- W2890561403 cites W2082577333 @default.
- W2890561403 cites W2105233575 @default.
- W2890561403 cites W2118664033 @default.
- W2890561403 cites W2131476886 @default.
- W2890561403 cites W2136230100 @default.
- W2890561403 cites W2159800390 @default.
- W2890561403 cites W2168784140 @default.
- W2890561403 cites W2170281382 @default.
- W2890561403 cites W2206291032 @default.
- W2890561403 cites W2229066693 @default.
- W2890561403 cites W2502172977 @default.
- W2890561403 cites W2510648196 @default.
- W2890561403 cites W2519587718 @default.
- W2890561403 cites W2537718153 @default.
- W2890561403 cites W2588973888 @default.
- W2890561403 cites W2589161214 @default.
- W2890561403 cites W2752927128 @default.
- W2890561403 cites W2782297377 @default.
- W2890561403 cites W2948449764 @default.
- W2890561403 doi "https://doi.org/10.1002/mds.27393" @default.
- W2890561403 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30192031" @default.
- W2890561403 hasPublicationYear "2018" @default.
- W2890561403 type Work @default.
- W2890561403 sameAs 2890561403 @default.
- W2890561403 citedByCount "31" @default.
- W2890561403 countsByYear W28905614032019 @default.
- W2890561403 countsByYear W28905614032020 @default.
- W2890561403 countsByYear W28905614032021 @default.
- W2890561403 countsByYear W28905614032022 @default.
- W2890561403 countsByYear W28905614032023 @default.
- W2890561403 crossrefType "journal-article" @default.
- W2890561403 hasAuthorship W2890561403A5000462209 @default.
- W2890561403 hasAuthorship W2890561403A5002529713 @default.
- W2890561403 hasAuthorship W2890561403A5006923223 @default.
- W2890561403 hasAuthorship W2890561403A5015892594 @default.
- W2890561403 hasAuthorship W2890561403A5049639247 @default.
- W2890561403 hasAuthorship W2890561403A5050132614 @default.
- W2890561403 hasAuthorship W2890561403A5052771533 @default.
- W2890561403 hasAuthorship W2890561403A5058908222 @default.
- W2890561403 hasAuthorship W2890561403A5068491289 @default.
- W2890561403 hasAuthorship W2890561403A5068995106 @default.
- W2890561403 hasAuthorship W2890561403A5072352390 @default.
- W2890561403 hasAuthorship W2890561403A5073060086 @default.
- W2890561403 hasAuthorship W2890561403A5078283527 @default.
- W2890561403 hasConcept C126322002 @default.
- W2890561403 hasConcept C134018914 @default.
- W2890561403 hasConcept C181199279 @default.
- W2890561403 hasConcept C185592680 @default.
- W2890561403 hasConcept C2778163477 @default.
- W2890561403 hasConcept C2779134260 @default.
- W2890561403 hasConcept C2779734285 @default.
- W2890561403 hasConcept C2779994418 @default.
- W2890561403 hasConcept C2780674200 @default.
- W2890561403 hasConcept C55493867 @default.
- W2890561403 hasConcept C61322309 @default.
- W2890561403 hasConcept C71924100 @default.
- W2890561403 hasConceptScore W2890561403C126322002 @default.
- W2890561403 hasConceptScore W2890561403C134018914 @default.
- W2890561403 hasConceptScore W2890561403C181199279 @default.
- W2890561403 hasConceptScore W2890561403C185592680 @default.
- W2890561403 hasConceptScore W2890561403C2778163477 @default.
- W2890561403 hasConceptScore W2890561403C2779134260 @default.
- W2890561403 hasConceptScore W2890561403C2779734285 @default.
- W2890561403 hasConceptScore W2890561403C2779994418 @default.
- W2890561403 hasConceptScore W2890561403C2780674200 @default.
- W2890561403 hasConceptScore W2890561403C55493867 @default.
- W2890561403 hasConceptScore W2890561403C61322309 @default.
- W2890561403 hasConceptScore W2890561403C71924100 @default.
- W2890561403 hasFunder F4320321079 @default.