Peripheral proteinopathy in neurodegenerative diseases

Table 1 Summary of recent studies on protein properties in central and peripheral systems

Proteins		Gene	Isoforms	Distribution and aggregation	References
APP	APP₆₉₅	APP	Aβ₄₂	Brain (extracellular matrix)^O,F,D	[17, 18, 41]
APP	APP₇₅₁ & APP₇₇₀	APP	Aβ₄₀	Skin^D, subcutaneous tissue^D, liver (hepatocytes)^D, intestine^D, blood (platelet) and blood vessels^D, retina^D, kidney (renal tubular epithelial cells)^D, muscle (skeletal muscle cells)^D, and heart^D	[16, 36,37,38,39]
Tau		MAPT	Small Tau	Brain (neurons)^NFT	[74, 75]
Tau		MAPT	Big Tau	Peripheral nervous system (peripheral neurons)^D, blood (monocytes and lymphocytes), lungs (endothelial cells)^D, heart^D, liver^D, skin^D, kidney^D, pancreas (pancreatic beta cells)^D, intestine (enteroendocrine cells)^D, gallbladder^D, submandibular gland^D, retina^D, bone^D, and muscle^D	[63,64,65,66,67,68,69,70,71, 78, 79]
α-Syn		SNCA	Non-α-helix structure	Brain (neurons and oligodendrocytes)^O,F,D	[84, 85]
α-Syn		SNCA	α-Helix structure	Intestine (enteric neurons), peripheral nervous, heart, blood (erythrocytes), skin, retina^D, and submandibular gland	[86,87,88,89,90,91,92,93, 97, 98, 100, 101]
TDP-43		TARDBP	TDP-43	Brain^O,F,D	[103,104,105,106,107,108,109,110,111,112,113]
TDP-43		TARDBP	TDP-43	Throughout the body (cell nucleus) skeletal muscle^D, cardiac muscle^D, paraspinal muscle^D, diaphragm^D, appendicular muscle^D, intramuscular nerve bundle^D	[103,104,105,106,107,108,109,110,111,112,113]

ISSN: 2047-9158