Matches in SemOpenAlex for { <https://semopenalex.org/work/W4287306557> ?p ?o ?g. }
- W4287306557 abstract "Mutations within Superoxide dismutase 1 (SOD1) cause amyotrophic lateral sclerosis (ALS), accounting for approximately 20% of familial cases. The pathological feature is a loss of motor neurons with enhanced formation of intracellular misfolded SOD1. Homozygous SOD1-D90A in familial ALS has been reported to show slow disease progression. Here, we reported a rare case of a slowly progressive ALS patient harboring a novel SOD1 homozygous mutation D92G (homD92G). The neuronal cell line overexpressing SOD1-D92G showed a lower ratio of the insoluble/soluble fraction of SOD1 with fine aggregates of the misfolded SOD1 and lower cellular toxicity than those overexpressing SOD1-G93A, a mutation that generally causes rapid disease progression. Next, we analyzed spinal motor neurons derived from induced pluripotent stem cells (iPSC) of a healthy control subject and ALS patients carrying SOD1-homD92G or heterozygous SOD1-L144FVX mutation. Lower levels of misfolded SOD1 and cell loss were observed in the motor neurons differentiated from patient-derived iPSCs carrying SOD1-homD92G than in those carrying SOD1-L144FVX. Taken together, SOD1-homD92G has a lower propensity to aggregate and induce cellular toxicity than SOD1-G93A or SOD1-L144FVX, and these cellular phenotypes could be associated with the clinical course of slowly progressive ALS." @default.
- W4287306557 created "2022-07-25" @default.
- W4287306557 creator A5010814235 @default.
- W4287306557 creator A5020428963 @default.
- W4287306557 creator A5030425950 @default.
- W4287306557 creator A5034964130 @default.
- W4287306557 creator A5036976658 @default.
- W4287306557 creator A5038839119 @default.
- W4287306557 creator A5039343897 @default.
- W4287306557 creator A5039771799 @default.
- W4287306557 creator A5049226902 @default.
- W4287306557 creator A5061304175 @default.
- W4287306557 creator A5062406520 @default.
- W4287306557 creator A5069055172 @default.
- W4287306557 creator A5075848407 @default.
- W4287306557 creator A5083789953 @default.
- W4287306557 creator A5090605746 @default.
- W4287306557 creator A5036747792 @default.
- W4287306557 date "2022-07-25" @default.
- W4287306557 modified "2023-10-17" @default.
- W4287306557 title "Cellular analysis of SOD1 protein-aggregation propensity and toxicity: a case of ALS with slow progression harboring homozygous SOD1-D92G mutation" @default.
- W4287306557 cites W1706903832 @default.
- W4287306557 cites W1978569326 @default.
- W4287306557 cites W1989227252 @default.
- W4287306557 cites W1996904797 @default.
- W4287306557 cites W2038372259 @default.
- W4287306557 cites W2056417983 @default.
- W4287306557 cites W2073757903 @default.
- W4287306557 cites W2076481816 @default.
- W4287306557 cites W2096386031 @default.
- W4287306557 cites W2099313405 @default.
- W4287306557 cites W2107768418 @default.
- W4287306557 cites W2128815118 @default.
- W4287306557 cites W2128918441 @default.
- W4287306557 cites W2138207816 @default.
- W4287306557 cites W2138977668 @default.
- W4287306557 cites W2142064395 @default.
- W4287306557 cites W2150523249 @default.
- W4287306557 cites W2154945114 @default.
- W4287306557 cites W2161938104 @default.
- W4287306557 cites W2189999226 @default.
- W4287306557 cites W2407646467 @default.
- W4287306557 cites W2417095827 @default.
- W4287306557 cites W2568241708 @default.
- W4287306557 cites W2619342418 @default.
- W4287306557 cites W2915925525 @default.
- W4287306557 cites W2920816178 @default.
- W4287306557 cites W2961301221 @default.
- W4287306557 cites W2964002636 @default.
- W4287306557 cites W3207884251 @default.
- W4287306557 cites W4243201219 @default.
- W4287306557 doi "https://doi.org/10.1038/s41598-022-16871-3" @default.
- W4287306557 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35879519" @default.
- W4287306557 hasPublicationYear "2022" @default.
- W4287306557 type Work @default.
- W4287306557 citedByCount "2" @default.
- W4287306557 countsByYear W42873065572022 @default.
- W4287306557 countsByYear W42873065572023 @default.
- W4287306557 crossrefType "journal-article" @default.
- W4287306557 hasAuthorship W4287306557A5010814235 @default.
- W4287306557 hasAuthorship W4287306557A5020428963 @default.
- W4287306557 hasAuthorship W4287306557A5030425950 @default.
- W4287306557 hasAuthorship W4287306557A5034964130 @default.
- W4287306557 hasAuthorship W4287306557A5036747792 @default.
- W4287306557 hasAuthorship W4287306557A5036976658 @default.
- W4287306557 hasAuthorship W4287306557A5038839119 @default.
- W4287306557 hasAuthorship W4287306557A5039343897 @default.
- W4287306557 hasAuthorship W4287306557A5039771799 @default.
- W4287306557 hasAuthorship W4287306557A5049226902 @default.
- W4287306557 hasAuthorship W4287306557A5061304175 @default.
- W4287306557 hasAuthorship W4287306557A5062406520 @default.
- W4287306557 hasAuthorship W4287306557A5069055172 @default.
- W4287306557 hasAuthorship W4287306557A5075848407 @default.
- W4287306557 hasAuthorship W4287306557A5083789953 @default.
- W4287306557 hasAuthorship W4287306557A5090605746 @default.
- W4287306557 hasBestOaLocation W42873065571 @default.
- W4287306557 hasConcept C104317684 @default.
- W4287306557 hasConcept C107459253 @default.
- W4287306557 hasConcept C136238340 @default.
- W4287306557 hasConcept C142724271 @default.
- W4287306557 hasConcept C145103041 @default.
- W4287306557 hasConcept C185592680 @default.
- W4287306557 hasConcept C2775838275 @default.
- W4287306557 hasConcept C2776151105 @default.
- W4287306557 hasConcept C2777615887 @default.
- W4287306557 hasConcept C2779134260 @default.
- W4287306557 hasConcept C2780596555 @default.
- W4287306557 hasConcept C501734568 @default.
- W4287306557 hasConcept C54355233 @default.
- W4287306557 hasConcept C55493867 @default.
- W4287306557 hasConcept C71924100 @default.
- W4287306557 hasConcept C86803240 @default.
- W4287306557 hasConcept C95444343 @default.
- W4287306557 hasConceptScore W4287306557C104317684 @default.
- W4287306557 hasConceptScore W4287306557C107459253 @default.
- W4287306557 hasConceptScore W4287306557C136238340 @default.
- W4287306557 hasConceptScore W4287306557C142724271 @default.
- W4287306557 hasConceptScore W4287306557C145103041 @default.
- W4287306557 hasConceptScore W4287306557C185592680 @default.
- W4287306557 hasConceptScore W4287306557C2775838275 @default.