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. Author manuscript; available in PMC: 2023 Mar 16.
Published in final edited form as: Neuron. 2022 Feb 7;110(6):935–966. doi: 10.1016/j.neuron.2022.01.017

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)