id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_jsie373ikrbk5flmjvme63m4pi	Emma L. Baple	Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures	2014.0	8	.pdf	application/pdf	5318	541	54	and whole-exome sequencing on samples from families from the Amish community of Ohio, we have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. analyses in primary neuronal cell cultures showed that endogenous and GFP-tagged kaptin associates with dynamic actin cytoskeletal developmental disability and brain development,5–7 highlighting the important role of the actin cytoskeleton in Wild-type Flag-kaptin was observed to be localized at F-actin-rich foci in close proximity to the cell bodies this, wild-type Flag-kaptin accumulated at COS-7 cell (A and B) Flag-kaptin colocalized with F-actin-rich foci at the cell body and in growth cones (examples of both are marked by arrow heads Puncta enriched with anti-kaptin immunoreactivity (marked by arrow heads) were rich in F-actin, as shown (GFP-kaptin) was found to localize at F-actin-rich lamellipodia of COS-7 cells, both altered forms of kaptin displayed no Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures	./cache/work_jsie373ikrbk5flmjvme63m4pi.pdf	./txt/work_jsie373ikrbk5flmjvme63m4pi.txt