FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4287917638> ?p ?o ?g. }

• W4287917638 abstract "A hexanucleotide G4C2 repeat expansion in C9orf72 is the most common genetic cause of familial and sporadic cases of amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD). The mutation is associated with a reduction of C9orf72 protein and accumulation of toxic RNA and dipeptide repeat aggregates. The accumulation of toxic RNA has been proposed to sequester RNA binding proteins thereby altering RNA processing, consistent with previous transcriptome studies that have shown that the C9orf72 repeat expansion is linked to abundant splicing alterations and transcriptome changes. Here, we used a subcellular fractionation method and FACS to enrich for neuronal nuclei from C9orf72 repeat expanded post-mortem human ALS/FTD brains, and to remove neuronal nuclei with TDP-43 pathology which are observed in nearly all symptomatic C9orf72 repeat expanded cases. We show that the C9orf72 expansion is associated with relatively mild gene expression changes. Dysregulated genes were enriched for vesicle transport pathways, which is consistent with the known functions of C9orf72 protein. Further analysis suggests that the C9orf72 transcriptome is not driven by toxic RNA but is rather shaped by the depletion of pathologic TDP-43 nuclei and the loss of C9orf72 expression. These findings argue against RNA binding protein sequestration in neurons as a major contributor to C9orf72 mediated toxicity." @default.
• W4287917638 created "2022-07-26" @default.
• W4287917638 creator A5034386478 @default.
• W4287917638 creator A5061968243 @default.
• W4287917638 creator A5084631452 @default.
• W4287917638 date "2020-01-01" @default.
• W4287917638 modified "2023-09-29" @default.
• W4287917638 title "Neuronal Transcriptome from C9orf72 Repeat Expanded Human Tissue is Associated with Loss of C9orf72 Function." @default.
• W4287917638 cites W1137678651 @default.
• W4287917638 cites W1673222863 @default.
• W4287917638 cites W1796096082 @default.
• W4287917638 cites W1797572428 @default.
• W4287917638 cites W1974961961 @default.
• W4287917638 cites W1982725145 @default.
• W4287917638 cites W1984538960 @default.
• W4287917638 cites W1989800108 @default.
• W4287917638 cites W1999609473 @default.
• W4287917638 cites W2002294822 @default.
• W4287917638 cites W2016091352 @default.
• W4287917638 cites W2029752196 @default.
• W4287917638 cites W2036504531 @default.
• W4287917638 cites W2037606715 @default.
• W4287917638 cites W2071471772 @default.
• W4287917638 cites W2073073462 @default.
• W4287917638 cites W2082978061 @default.
• W4287917638 cites W2088483634 @default.
• W4287917638 cites W2090411283 @default.
• W4287917638 cites W2090919949 @default.
• W4287917638 cites W2099232044 @default.
• W4287917638 cites W2101509528 @default.
• W4287917638 cites W2102327538 @default.
• W4287917638 cites W2110308292 @default.
• W4287917638 cites W2112825204 @default.
• W4287917638 cites W2119679922 @default.
• W4287917638 cites W2123177715 @default.
• W4287917638 cites W2132121416 @default.
• W4287917638 cites W2136811446 @default.
• W4287917638 cites W2136949432 @default.
• W4287917638 cites W2137039075 @default.
• W4287917638 cites W2137209191 @default.
• W4287917638 cites W2143035838 @default.
• W4287917638 cites W2145023584 @default.
• W4287917638 cites W2150523249 @default.
• W4287917638 cites W2153032620 @default.
• W4287917638 cites W2154945114 @default.
• W4287917638 cites W2164983138 @default.
• W4287917638 cites W2166142331 @default.
• W4287917638 cites W2171967549 @default.
• W4287917638 cites W2178453041 @default.
• W4287917638 cites W2187620259 @default.
• W4287917638 cites W2189443629 @default.
• W4287917638 cites W2289983190 @default.
• W4287917638 cites W2304886140 @default.
• W4287917638 cites W2460035459 @default.
• W4287917638 cites W2520605819 @default.
• W4287917638 cites W2528746299 @default.
• W4287917638 cites W2567966196 @default.
• W4287917638 cites W2578314205 @default.
• W4287917638 cites W2583073508 @default.
• W4287917638 cites W2599460595 @default.
• W4287917638 cites W2612410326 @default.
• W4287917638 cites W2615294801 @default.
• W4287917638 cites W2617594926 @default.
• W4287917638 cites W2786767451 @default.
• W4287917638 cites W2806367594 @default.
• W4287917638 cites W2809559846 @default.
• W4287917638 cites W2885472413 @default.
• W4287917638 cites W2907244330 @default.
• W4287917638 cites W2914644978 @default.
• W4287917638 cites W2940971975 @default.
• W4287917638 cites W2942885970 @default.
• W4287917638 cites W2952098662 @default.
• W4287917638 cites W2963515463 @default.
• W4287917638 cites W2979518663 @default.
• W4287917638 cites W2981926833 @default.
• W4287917638 cites W3015315508 @default.
• W4287917638 cites W3016970018 @default.
• W4287917638 cites W3029661147 @default.
• W4287917638 cites W395020372 @default.
• W4287917638 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32905541" @default.
• W4287917638 hasPublicationYear "2020" @default.
• W4287917638 type Work @default.
• W4287917638 citedByCount "1" @default.
• W4287917638 countsByYear W42879176382022 @default.
• W4287917638 crossrefType "journal-article" @default.
• W4287917638 hasAuthorship W4287917638A5034386478 @default.
• W4287917638 hasAuthorship W4287917638A5061968243 @default.
• W4287917638 hasAuthorship W4287917638A5084631452 @default.
• W4287917638 hasConcept C104317684 @default.
• W4287917638 hasConcept C105580179 @default.
• W4287917638 hasConcept C142724271 @default.
• W4287917638 hasConcept C150194340 @default.
• W4287917638 hasConcept C162317418 @default.
• W4287917638 hasConcept C166252455 @default.
• W4287917638 hasConcept C180754005 @default.
• W4287917638 hasConcept C194583182 @default.
• W4287917638 hasConcept C2777898937 @default.
• W4287917638 hasConcept C2779134260 @default.
• W4287917638 hasConcept C2780596555 @default.
• W4287917638 hasConcept C54355233 @default.

• next