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. Author manuscript; available in PMC: 2023 Feb 8.
Published in final edited form as: Brain Res Bull. 2022 Oct 29;192:115–127. doi: 10.1016/j.brainresbull.2022.10.017

Table 3.

Mutations of RNA-binding proteins linked to ALS/FTD spectrum.

Genes RNA-binding proteins Mutations References

TARDBP Yes Missense (Benajiba et al., 2009; Borroni et al., 2009)
FUS Yes Missense (Broustal et al., 2010; Van Langenhove et al., 2010)
HNRNPA1 Yes Missense (Kim et al., 2013)
HNRNPA2/B1 Yes Missense (Kim et al., 2013)
TIA1 Yes Missense (Mackenzie et al., 2017)
MATR3 Yes Missense (Johnson et al., 2014)
TAF15 Yes Missense (Ticozzi et al., 2011)
EWSR1 Yes Missense (Couthouis et al., 2012)
ANG Yes Missense (van Es et al., 2009)
GLE1 Yes Multiple (Kaneb et al., 2015)
SETX Yes Missense (Chen et al., 2004)
ARHGEF28 Yes Frameshift (Droppelmann et al., 2013b)
SOD1 Yes Missense (Katz et al., 2012)
ATXN2 Yes PolyQ expansions (Elden et al., 2010)
C9orf72 RNA toxicity G4C2 repeat expansion (DeJesus-Hernandez et al., 2011)