Article
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.
Proceedings of the National Academy of Sciences of the United States of America - 12 Jul 2011
Tornberg Janne, Sykiotis Gerasimos P, Keefe Kimberly, Plummer Lacey, Hoang Xuan, Hall Janet E, Quinton Richard, Seminara Stephanie B, Hughes Virginia, Van Vliet Guy, Van Uum Stan, Crowley William F, Habuchi Hiroko, Kimata Koji, Pitteloud Nelly, Bülow Hannes E
Abstract excerpt
Neuronal development is the result of a multitude of neural migrations, which require extensive cell-cell communication. These processes are modulated by extracellular matrix components, such as heparan sulfate (HS) polysaccharides. HS is molecularly complex as a result of nonrandom modifications of the sugar moieties, including sulfations in specific positions. We report here mutations in HS 6-O-sulfotransferase...
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