Table 1.

Examples of genes mutated in human neurodegenerative disease that encode autophagy proteins

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