Matches in SemOpenAlex for { <https://semopenalex.org/work/W2277130721> ?p ?o ?g. }
- W2277130721 endingPage "356" @default.
- W2277130721 startingPage "342" @default.
- W2277130721 abstract "Heterozygous mutations in the glucocerebrosidase gene (GBA) represent the strongest common genetic risk factor for Parkinson's disease (PD), the second most common neurodegenerative disorder. However, the molecular mechanisms underlying this association are still poorly understood. Here, we have analyzed ten independent induced pluripotent stem cell (iPSC) lines from three controls and three unrelated PD patients heterozygous for the GBA-N370S mutation, and identified relevant disease mechanisms. After differentiation into dopaminergic neurons, we observed misprocessing of mutant glucocerebrosidase protein in the ER, associated with activation of ER stress and abnormal cellular lipid profiles. Furthermore, we observed autophagic perturbations and an enlargement of the lysosomal compartment specifically in dopamine neurons. Finally, we found increased extracellular α-synuclein in patient-derived neuronal culture medium, which was not associated with exosomes. Overall, ER stress, autophagic/lysosomal perturbations, and elevated extracellular α-synuclein likely represent critical early cellular phenotypes of PD, which might offer multiple therapeutic targets." @default.
- W2277130721 created "2016-06-24" @default.
- W2277130721 creator A5003673082 @default.
- W2277130721 creator A5005794172 @default.
- W2277130721 creator A5006503117 @default.
- W2277130721 creator A5010017708 @default.
- W2277130721 creator A5015630245 @default.
- W2277130721 creator A5016080832 @default.
- W2277130721 creator A5016138987 @default.
- W2277130721 creator A5019170976 @default.
- W2277130721 creator A5019613030 @default.
- W2277130721 creator A5021190421 @default.
- W2277130721 creator A5023234887 @default.
- W2277130721 creator A5028723665 @default.
- W2277130721 creator A5035259136 @default.
- W2277130721 creator A5041366363 @default.
- W2277130721 creator A5043808724 @default.
- W2277130721 creator A5057831393 @default.
- W2277130721 creator A5058724004 @default.
- W2277130721 creator A5061923484 @default.
- W2277130721 creator A5065089613 @default.
- W2277130721 creator A5067875688 @default.
- W2277130721 date "2016-03-01" @default.
- W2277130721 modified "2023-10-12" @default.
- W2277130721 title "ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons" @default.
- W2277130721 cites W1964460387 @default.
- W2277130721 cites W1972423412 @default.
- W2277130721 cites W1975207448 @default.
- W2277130721 cites W1977267085 @default.
- W2277130721 cites W1980942517 @default.
- W2277130721 cites W1982224533 @default.
- W2277130721 cites W1985542464 @default.
- W2277130721 cites W1986371962 @default.
- W2277130721 cites W1987473208 @default.
- W2277130721 cites W1996637092 @default.
- W2277130721 cites W2000284836 @default.
- W2277130721 cites W2010965956 @default.
- W2277130721 cites W2019895460 @default.
- W2277130721 cites W2022649483 @default.
- W2277130721 cites W2024423961 @default.
- W2277130721 cites W2028072328 @default.
- W2277130721 cites W2031365272 @default.
- W2277130721 cites W2031754652 @default.
- W2277130721 cites W2043122791 @default.
- W2277130721 cites W2044241702 @default.
- W2277130721 cites W2045044466 @default.
- W2277130721 cites W2052029497 @default.
- W2277130721 cites W2055652883 @default.
- W2277130721 cites W2065236536 @default.
- W2277130721 cites W2065713555 @default.
- W2277130721 cites W2068288454 @default.
- W2277130721 cites W2076743021 @default.
- W2277130721 cites W2078378216 @default.
- W2277130721 cites W2079133058 @default.
- W2277130721 cites W2079378641 @default.
- W2277130721 cites W2079569342 @default.
- W2277130721 cites W2089900719 @default.
- W2277130721 cites W2099884882 @default.
- W2277130721 cites W2107811377 @default.
- W2277130721 cites W2121999038 @default.
- W2277130721 cites W2129932192 @default.
- W2277130721 cites W2131409719 @default.
- W2277130721 cites W2134369114 @default.
- W2277130721 cites W2137300912 @default.
- W2277130721 cites W2144037754 @default.
- W2277130721 cites W2144555562 @default.
- W2277130721 cites W2152874097 @default.
- W2277130721 cites W2158930854 @default.
- W2277130721 cites W2164778558 @default.
- W2277130721 cites W2168021147 @default.
- W2277130721 cites W2170281382 @default.
- W2277130721 doi "https://doi.org/10.1016/j.stemcr.2016.01.013" @default.
- W2277130721 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4788783" @default.
- W2277130721 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26905200" @default.
- W2277130721 hasPublicationYear "2016" @default.
- W2277130721 type Work @default.
- W2277130721 sameAs 2277130721 @default.
- W2277130721 citedByCount "259" @default.
- W2277130721 countsByYear W22771307212016 @default.
- W2277130721 countsByYear W22771307212017 @default.
- W2277130721 countsByYear W22771307212018 @default.
- W2277130721 countsByYear W22771307212019 @default.
- W2277130721 countsByYear W22771307212020 @default.
- W2277130721 countsByYear W22771307212021 @default.
- W2277130721 countsByYear W22771307212022 @default.
- W2277130721 countsByYear W22771307212023 @default.
- W2277130721 crossrefType "journal-article" @default.
- W2277130721 hasAuthorship W2277130721A5003673082 @default.
- W2277130721 hasAuthorship W2277130721A5005794172 @default.
- W2277130721 hasAuthorship W2277130721A5006503117 @default.
- W2277130721 hasAuthorship W2277130721A5010017708 @default.
- W2277130721 hasAuthorship W2277130721A5015630245 @default.
- W2277130721 hasAuthorship W2277130721A5016080832 @default.
- W2277130721 hasAuthorship W2277130721A5016138987 @default.
- W2277130721 hasAuthorship W2277130721A5019170976 @default.
- W2277130721 hasAuthorship W2277130721A5019613030 @default.
- W2277130721 hasAuthorship W2277130721A5021190421 @default.
- W2277130721 hasAuthorship W2277130721A5023234887 @default.