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. Author manuscript; available in PMC: 2021 Jan 1.
Published in final edited form as: Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Oct 31;1865(1):158544. doi: 10.1016/j.bbalip.2019.158544

Table 2:

ER-Endo/Lysosomal MCS Localized Proteins Linked to Human Diseases

MCS Protein Localization Associated Disease Reference
M1 Spastin ER HSP [38, 150]
Protrudin ER HSP [38, 150]
Strumpellin ER HSP [38, 94, 95, 150]
VAPB ER ALS [107]
NPC1 Late endosomes Niemann-Pick disease, type C1 (lysosome storage disease) [28, 155]
Annexin A1 Early and late endosomes Cancer [156]
VPS35 Early and late endosomes Parkinson’s Disease [92][93]
VPS13C MCSs of ER-late endosomes/lysosomes and lipid droplets Parkinson’s Disease [117, 118]