Wortmann(S B),Lefeber(D J),Dekomien(G),Wil... J Inherit Metab Dis 2013-08-05

...HEXB gene mutation. After the epilepsy was controlled, the clinical course remained stable for years, defined by a mild ...

Arthur(Julian R),Wilson(Michael W),Larsen(... Neurochem Res 2013-09-12

...Hexb-/-) mice. Sandhoff mice received intraperitoneal injections of phosphate buffered saline (PBS) or 3h (60 mg/kg/day)...

Sanders(Douglas N),Zeng(Rong),Wenger(David... Mol Genet Metab 2013-06-05

...HEXB genes, respectively); and, hexosaminidase B composed of two β subunits. Hexosaminidase A requires an activator prot...

Ogawa(Yasuhiro),Tanaka(Makoto),Tanabe(Miho... PLoS One 2013-07-17

Sandhoff disease (SD) is a glycosphingolipid storage disease that arises from mutations in the Hexb gene and the resulta...

Sinici(Incilay),Yonekawa(Sayuri),Tkachyova... PLoS One 2013-09-04

...HEXB genes, respectively), and the GM2-activator protein (GM2AP, encoded by the GM2A gene). Mutations in any one of thes...

Matsuoka(Kazuhiko),Tsuji(Daisuke),Taki(Tak... J Inherit Metab Dis 2012-01-16

...HEXB gene associated with excessive accumulation of GM2 ganglioside (GM2) in lysosomes and neurological manifestations. ...

Fitterer(Braden B),Antonishyn(Nick A),Hall... Genet Test Mol Biomarkers 2012-10-10

...HEXB gene from 4 patients with clinical presentation of Sandhoff disease. Herein we describe a novel HEXB mutation that ...

Ankala(Arunkanth),Kohn(Jordan N),Hegde(Ani... Genome Res 2012-04-24

...HEXB, three DBT, one HRPT1, and one EMD cases). While repetitive elements were found in only four individual cases, thre...

Ong(Chi Wi),Yang(Ya-Ting),Liu(Meng-Chi),Fo... Org Biomol Chem 2012-05-02

...HexB DNA fragment at AT sites, as well as some other mixed sequences (5'-ATGTCG-3'), indicative of the additional role o...

Ye(Feng),Zhang(Huoming),Yang(Yi-Xuan),Hu(H... J Cell Biochem 2012-04-12

...HEXB, DPP7, PTTG1IP, PRDX5, EPDR1, SPNB2, STEAP3, TPP1, etc.). The partially differential proteins were verified by West...