. Author manuscript; available in PMC: 2015 Jun 1.

Published in final edited form as: Curr Opin Cell Biol. 2014 Apr 3;0:69–75. doi: 10.1016/j.ceb.2014.03.002

Table 1.

Human diseases associated with genetic mutations in KASH proteins

KASH protein	Disease	Reference
Nesprin-1	Emery-Dreifuss muscular dystrophy	[70]
	Myogenic autosomal recessive arthrogyroposis	[71]
	Autosomal recessive cerebellar ataxia	[72,73]
	Colorectal cancer	[74]
	Ovarian cancer	[75]
	Bipolar disorder	[76,77]
	Recurrent major depression	[77]
	Familial autism spectrum disorders	[78,79]
Nesprin-2	Emery-Dreifuss muscular dystrophy	[70]
	Breast cancer	[74]
	Gastrointesitnal stromal tumors	[80]
Nesprin-4	High-frequency hearing loss	[19]