Autophagic and endo-lysosomal dysfunction in neurodegenerative disease

Table 1 Neurodegenerative disease associated gene associated with autophagy and endo-lysosomal processes

Gene	Process	Evidence	Key References
Alzheimer’s Disease
APOE	Early endosomes	GA	[2]
BECN1	Macroautophagy	BM	[3,4,5]
BIN1	Early endosomes	GA	[6]
CD2AP	Early endosomes	GA	[7]
CLU	Early endosomes	GA	[8, 9]
EPHA1	Early endosomes	GA	[10, 11]
PICALM	Early endosomes	GA	[8]
PSEN1	Recycling endosomes / Lysosomes	GA	[12]
RAB7A	Mitophagy / Late endosomes	BM	[13]
SORCS1	Retromer	GA	[14]
SORL1	Early endosomes / Retromer	GA	[14]
Parkinson’s Disease
DNAJC6	Early endosomes / Retromer	GA	[15, 16]
FBXO7	Mitophagy	CM	[17, 18]
GAK	Late endosomes	GA	[19]
GBA	Mitophagy, Lysosome	GA	[20]
LRRK2	Mitophagy / Macroautophagy / Chaperone-mediated mitophagy (CMA)	CM	[21,22,23]
PINK1	Mitophagy	CM	[24, 25]
PRKN	Mitophagy	CM	[26, 27]
RAB29/RAB7L1	Late endosomes	GA	[28]
SNCA	Macroautophagy	CM/BM	[29]
SYNJ	Early Endosomes	GA	[30, 31]
UCH-L1	CMA	GA/BM	[32, 33]
VPS35	Retromer	CM	[34, 35]
Huntington’s Disease
ATG7	Macroautophagy	GA	[36, 37]
BECN1	Macroautophagy	BM	[38]
HTT	Early endosomes / Recycling endosomes	CM / BM	[39, 40]
Amytrophic Lateral Sclerosis / Frontotemporal Dementia
CHMP2B	Early Endosomes	GA / CM	[41, 42]
OPTN	Macroautophagy / Mitophagy	GA	[43]
p62/SQSTM1	Macroautophagy	CM	[44, 45]
TBK1	Macroautophagy / Mitophagy	CM	[46, 47]
Charcot Marie Tooth
RAB7A	Mitophagy / Late endosomes	CM	[48]
SH3TC2	Recycling endosomes	CM	[49]
Niemann-Pick Disease
NPC1	Lysosomes	CM	[50, 51]
NPC2	Lysosomes	CM	[52, 53]

BM Biomarker: genes with histological, molecular or biochemical evidence for contribution of gene in neurodegenerative disease; CM Causative Mutation: Genes associated with hereditary forms of neurodegenerative disease; GA Genetic Association: Genes where association with neurodegenerative disease has been made through -omics research

ISSN: 1756-6606