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

From: Autophagic and endo-lysosomal dysfunction in neurodegenerative disease

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]
  1. 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