id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_yuny5v534naavol2otad4swpou	Gaurav V. Harlalka	Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis	2013.0	7	.pdf	application/pdf	5044	463	49	have been defined, only one proven inherited disease arising from a defect in ganglioside biosynthesis is known. because of defects in the first step of ganglioside biosynthesis (GM3 synthase), results in a severe epileptic disorder found at classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Our genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in Keywords: ganglioside biosynthesis; B4GALNT1; Amish; SPG26; hereditary spastic paraplegia defect in GSL biosynthesis and previous reports of potential ganglioside biosynthesis disorders based on biochemical evidence have GM2 synthase activity of the encoded polypeptide, we investigated the biochemical effect of the mutation in cultured skin fibroblasts from an affected brother and sister from the Italian family, determine the structure of peak 'X', we performed sialidase-A digests on both affected and unaffected fibroblast samples.	./cache/work_yuny5v534naavol2otad4swpou.pdf	./txt/work_yuny5v534naavol2otad4swpou.txt