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Reference | Molecular mechanism supported by the study | Experimental model |
Loss-of-function | Gain-of-function |
RNA-mediated gain-of-function | Protein-mediated gain-of-function |
|
Renton et al. [15] | | + | | Human DNA Human brain tissue Cell culture |
|
DeJesus-Hernandez et al. [14] | + | + | | Human DNA Human brain tissue Cell culture |
|
Gijselinck et al. [16] | + | | | Human brain tissue Human DNA |
|
Fratta et al. [58] | | + | + | Human DNA |
|
Therrien et al. [52] | + | | | Caenorhabditis elegans |
|
Belzil et al. [135] | + | | | Human brain tissue Cell culture |
|
Gendron et al. [67] | | + | + | Human DNA Human brain tissue Cell lines |
|
Zu et al. [93] | | + | + | Human brain tissue Human RNA Cell culture |
|
Mizielinska et al. [68] | | + | | Human brain tissue |
|
Lee et al. [70] | | + | | Human brain tissue Cell culture Zebrafish embryos Rat brain |
|
Sareen et al. [71] | | + | | iPSC-derived neurons |
|
Xu et al. [72] | | + | | Cell culture Drosophila |
|
Lagier-Tourenne et al. [54] | | + | | Human brain tissue Cell culture |
|
Donnelly et al. [69] | | + | | Human brain tissue Cell culture iPSC-derived neurons |
|
Ciura et al. [53] | + | | | Zebrafish Human brain tissue Cell culture |
|
Wen et al. [94] | | + | + | Cell culture Drosophila |
|
Liu et al. [50] | | + | + | Human autopsy tissue Human DNA Cell culture |
|
May et al. [138] | | | + | Human brain samples Cell culture |
|
Zhang et al. [102] | | | + | Human brain samples Cell culture |
|
Cooper-Knock et al. [73] | | + | | Human brain samples Cell culture |
|
Su et al. [134] | | + | + | Cell culture |
|
Kwon et al. [95] | | | + | Cell culture |
|
Haeusler et al [51] | | + | | Human brain tissue iPSC-derived neurons Cell culture |
|
Mizielinska et al. [87] | | + | + | Drosophila |
|
Russ et al. [139] | | + | + | Human DNA |
|
Prudencio et al. [113] | | + | + | Human brain tissue |
|
Chew et al. [140] | | + | + | Mouse model expressing 66 G4C2 repeats |
|
Freibaum et al. [32] | + | | + | Drosophila |
|
Yang et al. [101] | | | + | Drosophila Human brain samples Cell culture iPSC-derived neurons |
|
Jovičić et al. [33] | | | + | Yeast cells Cell culture |
|
Yamakawa et al. [99] | | | + | Cell culture Mice brains |
|
Hu et al. [141] | | + | | Cell culture |
|
Gendron et al. [110] | | | + | Human brain samples |
|
Tao et al. [98] | | | + | Cell culture |
|
Tran et al. [86] | | | + | Drosophila iPSC-derived neurons Human brain tissue |
|
Koppers et al. [55] | | + | + | Conditional C9orf72 knockout mouse model |
|
Cooper-Knock et al. [83] | | + | | Human brain tissue |
|
Zhang et al. [31] | | + | + | Drosophila iPSC-derived neurons Human brain tissue |
|
Rossi et al. [84] | | + | | Cell culture |
|
Cooper-Knock et al. [116] | | + | | Cell culture |
|
Schweizer Burguete et al. [85] | | + | | Cell culture Drosophila iPSC-derived neurons |
|
Liu et al. [92] | | + | + | BAC mouse model of C9FTD/ALS |
|
Kanekura et al. [96] | | | + | Human brain samples Cell culture |
|
Boeynaems et al. [142] | | | + | Drosophila |
|
Chang et al. [103] | | | + | Cell culture |
|
Flores et al. [143] | | | + | Cell culture |
|
Lin et al. [126] | | | + | Cell culture |
|
Lopez-Gonzalez et al. [144] | | | + | iPSC-derived neurons |
|
Liu et al. [145] | + | | | Human DNA and RNA |
|
Dodd et al. [146] | | + | | |
|
Zhang et al. [147] | | | + | Mice that exhibit poly(GA) pathology |
|
Westergard et al. [148] | | | + | iPSC-derived neurons Cell culture |
|
Sellier et al. [36] | + | | | Cell culture Zebrafish |
|
Mori et al. [149] | | + | + | Human brain samples Cell culture |
|
Gijselinck et al. [19] | + | | | Human DNA |
|
Ugolino et al. [150] | + | | | C9orf72 knockout mice C9orf72 knockdown cell models |
|
Lee et al. [125] | | | + | Drosophila Cell culture |
|
O’Rourke et al. [40] | | + | + | C9orf72 +/− and C9orf72 −/− mice |
|
Atanasio et al. [56] | | + | + | C9orf72-deficient mouse |
|
Jiang et al. [91] | | + | + | C9orf72 +/− and C9orf72 −/− mice Mice expressing BAC with the human expanded C9orf72 gene |
|
Webster et al. [34] | + | | | Cell culture iNeurons (obtained by differentiation of iNPCs) |
|
Ji et al. [151] | + | | | C9orf72 knockout mouse model Cell culture |
|
Ohki et al. [152] | | | + | Zebrafish |
|
Liu et al. [153] | | + | | Cell culture |
|
Hu et al. [154] | | + | | Cell culture |
|
Green et al. [155] | | | + | Cell culture |
|
Schludi et al. [156] | | | + | Transgenic mice expressing codon-modified (GA)149 |
|
Gupta et al. [157] | | | + | Cell culture |
|
Khosravi et al. [158] | | | + | Cell culture |
|
Shi et al. [159] | | | + | Cell culture |
|
Saberi et al. [160] | | | + | Human brain samples |
|
Kramer et al. [105] | | | + | Cell culture |
|
Herranz-Martin et al. [161] | | + | + | Mice that overexpress 10 or 102 interrupted G4C2 repeats |
|
Zhou et al. [162] | | | + | Cell culture Human brain samples |
|
Lehmer et al. [163] | | | + | Human CSF |
|
Hautbergue et al. [82] | | + | + | Drosophila Cell culture |
|
Boeynaems et al. [100] | | | + | Cell culture |
|
Maharjan et al. [39] | + | + | + | Cell culture |
|
Moens et al. [88] | | + | + | Drosophila |
|
Cheng et al. [164] | | | + | Cell culture |
|
Swinnen et al. [165] | | + | | Zebrafish |
|
Shi et al. [59] | + | | + | Cell culture iPSC-derived neurons Human brain samples |
|
Simone et al. [137] | | + | + | iPSC-derived neurons Drosophila |
|
Tabet et al. [166] | | | + | Human brain sections Cell culture |
|
Corrionero and Horvitz [167] | + | | | Caenorhabditis elegans |
|
Zamiri et al. [168] | | + | | CD spectroscopy UV melting Gel electrophoresis |
|
Swaminathan et al. [104] | | | + | Zebrafish |
|
Yeh et al. [169] | + | | | Zebrafish |
|
Meeter et al. [170] | | | + | Human brain samples |
Nonaka et al. [171] | | | + | Cell culture |
|
Frick et al. [29] | + | | | Human brain samples Cell culture C9orf72 knockout mice |
|