Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366217771> ?p ?o ?g. }
- W4366217771 abstract "The GGGGCC intronic repeat expansion within C9ORF72 is the most common genetic cause of ALS and FTD. This mutation results in toxic gain of function through accumulation of expanded RNA foci and aggregation of abnormally translated dipeptide repeat proteins, as well as loss of function due to impaired transcription of C9ORF72. A number of in vivo and in vitro models of gain and loss of function effects have suggested that both mechanisms synergize to cause the disease. However, the contribution of the loss of function mechanism remains poorly understood. We have generated C9ORF72 knockdown mice to mimic C9-FTD/ALS patients haploinsufficiency and investigate the role of this loss of function in the pathogenesis. We found that decreasing C9ORF72 leads to anomalies of the autophagy/lysosomal pathway, cytoplasmic accumulation of TDP-43 and decreased synaptic density in the cortex. Knockdown mice also developed FTD-like behavioral deficits and mild motor phenotypes at a later stage. These findings show that C9ORF72 partial loss of function contributes to the damaging events leading to C9-FTD/ALS." @default.
- W4366217771 created "2023-04-19" @default.
- W4366217771 creator A5001503613 @default.
- W4366217771 creator A5006151659 @default.
- W4366217771 creator A5010101585 @default.
- W4366217771 creator A5013058701 @default.
- W4366217771 creator A5016849500 @default.
- W4366217771 creator A5021064144 @default.
- W4366217771 creator A5022176395 @default.
- W4366217771 creator A5023712142 @default.
- W4366217771 creator A5026971258 @default.
- W4366217771 creator A5035811419 @default.
- W4366217771 creator A5036706411 @default.
- W4366217771 creator A5042566383 @default.
- W4366217771 creator A5049997386 @default.
- W4366217771 creator A5050883323 @default.
- W4366217771 creator A5053491220 @default.
- W4366217771 creator A5054602172 @default.
- W4366217771 creator A5062512325 @default.
- W4366217771 creator A5063744167 @default.
- W4366217771 creator A5064360632 @default.
- W4366217771 creator A5072926995 @default.
- W4366217771 creator A5073577653 @default.
- W4366217771 creator A5073616887 @default.
- W4366217771 creator A5082669317 @default.
- W4366217771 creator A5083973415 @default.
- W4366217771 creator A5089697853 @default.
- W4366217771 date "2023-04-17" @default.
- W4366217771 modified "2023-10-12" @default.
- W4366217771 title "C9ORF72 knockdown triggers FTD-like symptoms and cell pathology in mice" @default.
- W4366217771 cites W1481250329 @default.
- W4366217771 cites W1533438796 @default.
- W4366217771 cites W1573822259 @default.
- W4366217771 cites W1610732998 @default.
- W4366217771 cites W1646693466 @default.
- W4366217771 cites W1673222863 @default.
- W4366217771 cites W1796096082 @default.
- W4366217771 cites W1850621193 @default.
- W4366217771 cites W1965376857 @default.
- W4366217771 cites W1974183362 @default.
- W4366217771 cites W1974961961 @default.
- W4366217771 cites W1979742071 @default.
- W4366217771 cites W1984538960 @default.
- W4366217771 cites W1989634299 @default.
- W4366217771 cites W1999522052 @default.
- W4366217771 cites W2002433576 @default.
- W4366217771 cites W2003618511 @default.
- W4366217771 cites W2013488820 @default.
- W4366217771 cites W2015803357 @default.
- W4366217771 cites W2016249944 @default.
- W4366217771 cites W2017916137 @default.
- W4366217771 cites W2022527879 @default.
- W4366217771 cites W2034983095 @default.
- W4366217771 cites W2038735530 @default.
- W4366217771 cites W2041981154 @default.
- W4366217771 cites W2045151039 @default.
- W4366217771 cites W2063996210 @default.
- W4366217771 cites W2069171272 @default.
- W4366217771 cites W2086406144 @default.
- W4366217771 cites W2088483634 @default.
- W4366217771 cites W2092145129 @default.
- W4366217771 cites W2099232044 @default.
- W4366217771 cites W2102327538 @default.
- W4366217771 cites W2103275390 @default.
- W4366217771 cites W2104199101 @default.
- W4366217771 cites W2106248056 @default.
- W4366217771 cites W2110308292 @default.
- W4366217771 cites W2111425566 @default.
- W4366217771 cites W2114872355 @default.
- W4366217771 cites W2121553631 @default.
- W4366217771 cites W2126671539 @default.
- W4366217771 cites W2128739333 @default.
- W4366217771 cites W2132191094 @default.
- W4366217771 cites W2137039075 @default.
- W4366217771 cites W2139264742 @default.
- W4366217771 cites W2150523249 @default.
- W4366217771 cites W2154945114 @default.
- W4366217771 cites W2158949580 @default.
- W4366217771 cites W2165213609 @default.
- W4366217771 cites W2165254352 @default.
- W4366217771 cites W2166142331 @default.
- W4366217771 cites W2187620259 @default.
- W4366217771 cites W2189443629 @default.
- W4366217771 cites W2275007742 @default.
- W4366217771 cites W2297261057 @default.
- W4366217771 cites W2297401979 @default.
- W4366217771 cites W2304886140 @default.
- W4366217771 cites W2308742329 @default.
- W4366217771 cites W2336528486 @default.
- W4366217771 cites W2338545563 @default.
- W4366217771 cites W2340195634 @default.
- W4366217771 cites W2341088037 @default.
- W4366217771 cites W2343299166 @default.
- W4366217771 cites W2347084068 @default.
- W4366217771 cites W2377746043 @default.
- W4366217771 cites W2398515656 @default.
- W4366217771 cites W2406553940 @default.
- W4366217771 cites W2460035459 @default.
- W4366217771 cites W2467513012 @default.
- W4366217771 cites W2507179027 @default.