Table 1.
Protein | Gene with mutation | Neurodegenerative Disease | Protein function | References |
---|---|---|---|---|
WIPI4 | WDR45 | SENDA | Core autophagosome formation machinery | Mizushima et al., 2011, Weidberg et al., 2011, Saitsu et al., 2013 |
PINK1 | PINK1 | PD | Serine/Threonine Kinase; Mitophagy | Valente et al., 2004, Narendra et al., 2010, Lazarou et al., 2015 |
Parkin | PARK2 | PD | E3 Ubiquitin Ligase; Mitophagy | Kitada et al., 1998, Narendra et al., 2008, Lazarou et al., 2015 |
Optineurin | OPTN | ALS | Autophagy/mitophagy receptor | Maruyama et al., 2010, Wild et al., 2011, Wong and Holzbaur, 2014b |
p62/SQSTM1 | SQSTM1 | ALS | Autophagy/mitophagy receptor | Bjorkoy et al., 2005, Pankiv et al., 2007, Fecto et al., 2011 |
Ubiquilin-2 | UBQLN2 | ALS | Autophagy receptor | Rothenberg et al., 2010, Deng et al., 2011 |
VCP/p97 | VCP | ALS IBMPFD |
AAA(+)-ATPase; Regulates mitophagy, granulophagy, and autophagosome maturation | Ju et al., 2009, Johnson et al., 2010, Tresse et al., 2010, Buchan et al., 2013, Kim et al., 2013 |
TBK1 | TBK1 | ALS | Serine/Threonine Kinase; Mitophagy | Cirulli et al., 2015, Heo et al., 2015, Matsumoto et al., 2015 |