Table 1:
Summary of functional and morphological NCT defects in ALS/FTD.
| Defect | ALS/FTD subtype | Models | References |
|---|---|---|---|
| Irregular nuclear morphology | C9ORF72 | Drosophila, mouse | Freibaum et al., 2015; Chew et al., 2019 |
| PFN1 | cell lines | Giampetruzzi et al., 2019 | |
| SetX | patient tissue, mouse | Bennett et al., 2018 | |
| SOD1 | patient tissue, mouse | Kinoshita et al., 2009; Nagara et al., 2013 | |
| Tau | Drosophila, cell lines, patient tissue | Frost et al., 2016; Eftekharzadeh et al., 2018; Cornelison et al., 2019; Paonessa et al., 2019 | |
| TDP-43 | cell lines | Chou et al., 2018; Roczniak-Ferguson et al., 2019 | |
| VAPB | cell lines | Tran et al., 2012 | |
| sALS | patient tissue | Kinoshita et al., 2009; Nagara et al., 2013; Aizawa et al., 2018 | |
| Loss of Ran gradient | C9ORF72 | cell lines | Zhang et al., 2015; Zhang et al., 2018 |
| GRN | mouse | Ward et al., 2014 | |
| PFN1 | cell lines | Giampetruzzi et al., 2019 | |
| Tau | patient tissue, mouse | Eftekharzadeh et al., 2018 | |
| TDP-43 | cell lines | Zhang et al., 2018; Gasset-Rosa et al., 2019; | |
| Protein import defect | C9ORF72 | cell lines | Zhang et al., 2015; Khosravi et al., 2017; Shi et al., 2017; Vanneste et al., 2019 |
| PFN1 | cell lines | Giampetruzzi et al., 2019 | |
| SetX | mouse | Bennett et al., 2018 | |
| Tau | cell lines | Eftekharzadeh et al., 2018; Paonessa et al., 2019; | |
| TDP-43 | cell lines | Chou et al., 2018 | |
| RNA export defect | C9ORF72 | Drosophila | Freibaum et al., 2015 |
| Tau | cell lines | Cornelison et al., 2019 | |
| TDP-43 | cell lines | Woerner et al., 2016; Chou et al., 2018 | |
| Mislocalization/aggregation of NCT proteins | ADAR-2 | mouse | Yamashita et al., 2018 |
| C9ORF72 | mouse | Zhang et al., 2016 | |
| SOD1 | mouse | Shang et al., 2017 | |
| Tau | cell lines, patient tissue | Eftekharzadeh et al., 2018 | |
| TDP-43 | cell lines | Chou et al., 2018; Gasset-Rosa et al., 2019 | |
| sALS | patient tissue | Shang et al., 2017; Chou et al., 2018, Aizawa et al., 2019 | |
| Mislocalization of importins | C9ORF72 | Drosophila, patient tissue | Xao et al., 2015; Somolon et al., 2018 |
| SOD1 | mouse | Nagara et al., 2013 | |
| TDP-43 | cell lines, Drosophila | Gasset-Rosa et al., 2019; Solomon et al., 2018 | |
| sALS | patient tissue | Kinoshita et al., 2009; Nishimura et al., 2010; Yamashita et al., 2017; Aizawa et al., 2019 | |
| Loss of nuclear integrity | Tau/AD | patient tissue | Eftekharzadeh et al., 2018 |
| Aging | C. elegans, rat | D’Angelo et al., 2009 | |
| Blocked nuclear pores | C9ORF72 | cell lines | Shi et al., 2017 |