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A novel HEXB mutation and its structural effects in juvenile Sandhoff disease...

Wang(S Z),Cachón-González(M B),Stein(P E),... Mol Genet Metab 2008-12-23

Mutations in HEXB, encoding the beta-subunit common to hexosaminidases A and B, cause the neurodegenerative condition, S...

Imaging MALDI mass spectrometry using an oscillating capillary nebulizer matr...

Chen(Yanfeng),Allegood(Jeremy),Liu(Ying),W... Anal Chem 2008-05-20

...hexb gene (hexb-/-), a model of Tay-Sachs and Sandhoff disease, versus the functionally normal heterozygote (hexb+/-) by...

Lysosome-related genes are regulated in the orbital fat of patients with grav...

Chen(Mei-Hsiu),Liao(Shu-Lang),Chen(Ming-Ho... Invest Ophthalmol Vis Sci 2008-11-18

...HEXB) was reduced as well, but the change did not reach statistical significance (P = 0.058).,Lysosome-related genes, su...

Production of recombinant beta-hexosaminidase A, a potential enzyme for repla...

Akeboshi(Hiromi),Chiba(Yasunori),Kasahara(... Appl Environ Microbiol 2007-10-10

...HexB (betabeta). A total of 57 mg of beta-hexosaminidase isozymes, of which 13 mg was HexA (alphabeta), was produced per...

Peripheral nervous system manifestations in a Sandhoff disease mouse model: n...

McNally(Melanie A),Baek(Rena C),Avila(Robi... J Negat Results Biomed 2007-11-13

...Hexb+/- and Hexb-/- mice. The low-angle x-ray diffraction patterns from freshly dissected sciatic and optic nerves of He...

Search for genes essential for pneumococcal transformation: the RADA DNA repa...

Burghout(Peter),Bootsma(Hester J),Klooster... J Bacteriol 2007-10-19

...hexB, and the counterselection of mutants in 21 different genes during the challenge. Eight of the counterselected genes...

Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene caus...

Kanae(Y),Endoh(D),Yamato(O),Hayashi(D),Mat... Res Vet Sci 2007-03-01

...HEXB gene in a family of Japanese domestic cats with G(M2) gangliosidosis variant 0 (Sandhoff disease) was determined. T...

Strain effects at the hexatic-B-smectic-A transition in the 65OBC liquid crys...

Mercuri(F),Paoloni(S),Zammit(U),Scudieri(F... Phys Rev E Stat Nonlin Soft... 2007-01-11

We have studied the hexatic-B-smectic-A (HexB-SmA) transition in n -hexyl- 4'-n -pentyloxybiphenyl-4-carboxylate (65OBC)...

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEX...

Santoro(Massimo),Modoni(Anna),Sabatelli(Ma... Mol Genet Metab 2007-07-25

We identified a novel c.1556A>G transition in exon 12 of the HEXB gene associated with chronic Sandhoff's disease, chang...

GlcNAcstatin: a picomolar, selective O-GlcNAcase inhibitor that modulates int...

Dorfmueller(Helge C),Borodkin(Vladimir S),... J Am Chem Soc 2007-02-20

...HexB. PUGNAc, an O-GlcNAcase inhibitor widely used to raise levels of O-GlcNAc in human cell lines, also inhibits these ...

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