Table 2.

Mutations in neurodegeneration-related genes with impact on CMA

Gene	Mutation/s	Associated disease	Effect on CMA	References
SNCA	A53T A30P	PD	Blocks CMA uptake	(Cuervo et al., 2004)
LRRK2	G2019S R1441C D1994A	PD	Reduces LAMP2A stability and blocks CMA uptake	(Orenstein et al., 2013)
VPS35	D620N	PD	Reduces LAMP2A stability	(Tang et al., 2015)
UCH-L1	I93M	PD	Blocks CMA substrates degradation	(Kabuta et al., 2008)
LAMP2	LAMP24127A>C	PD	Reduces LAMP2A transcription	(Pang et al., 2012)
MAPT	P301L	FTD	Blocks CMA degradation	(Caballeroet al., 2018)