id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_6i5qreftfvcdvcezhkbsi2udne	Alyssa J. Mathiowetz	An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex–driven autophagosomal remodeling pathway	2017.0	16	.pdf	application/pdf	12839	923	59	WHAMM function involved binding to the phospholipid PI(3)P and promoting actin nucleation at nascent autophagosomes. dehydrogenase; GFP, green fluorescent protein; GMS, Galloway-Mowat syndrome; GST, glutathione S-transferase; HA, hemagglutinin; HRP, horseradish peroxidase; IL-1β, interleukin-1β; LAP, localization and affinity purification; LCL, lymphoblastoid cell line; MBP, maltose-binding protein; PBS, phosphate-buffered To examine WHAMM protein expression, we generated lymphoblastoid cell lines (LCLs) from control Amish individuals, WHAMM mutation in Amish GMS patient cells and to uncover the FIGURE 1: Cells from Amish GMS patients encode truncated WHAMM variants. the rate of actin assembly (Figure 3B), confirming that, in the abFIGURE 2: Truncated WHAMM proteins exhibit altered properties in cells. GMS patient contained some LC3-positive autophagosomal structures under both types of autophagy-inducing conditions, cells FIGURE 3: Amish GMS WHAMM truncations do not promote actin nucleation but can associate Given the autophagy-related defects in cells of Amish GMS patients, we next examined whether WHAMM and/or WDR73 might 	./cache/work_6i5qreftfvcdvcezhkbsi2udne.pdf	./txt/work_6i5qreftfvcdvcezhkbsi2udne.txt