Tiribuzi(Roberto),D'Angelo(Francesco),Bera... Cell Biochem Funct 2015-08-24

In an attempt to investigate whether the genetic defect in the HEXA and HEXB genes (which causes the absence of the lyso...

Walia(Jagdeep S),Altaleb(Naderah),Bello(Al... Mol Ther 2015-11-16

...HexB died between 17 and 35 weeks. Neonatal SD-HexB-treated mice had a significant increase in brain β-hexosaminidase ac...

Yasui(Naoko),Takaoka(Yutaka),Nishio(Hisahi... J Hum Genet 2014-04-02

...HEXB encoding the β-subunit of β-hexosaminidase A. β-Hexosaminidase A exists as a heterodimer consisting of α- and β-sub...

Rahman(Mohammad Mahbubur),Yabuki(Akira),Ko... J Vet Med Sci 2014-11-03

...HEXB gene. In canine SD, a pathogenic mutation (c.283delG) of the canine HEXB gene has been identified in toy poodles. I...

Wu(Tongfei),Li(Xiyuan),Wang(Qiao),Liu(Yupe... Zhejiang Da Xue Xue Bao Yi ... 2014-01-23

...HEXB gene diagnosis to the fetus was performed by direct sequencing.,Significant deficient total β-hexosaminidase (A and...

Gagne(Alyssa L),Stevens(Kathleen E),Casson... PLoS One 2014-05-14

...hexB enhanced the expression of competence. Similarly, chemical mutagenesis with the nucleotide analog dPTP promoted dev...

Tsuji(Daisuke) Yakugaku Zasshi 2014-04-03

...HEXB, each encoding human lysosomal β-hexosaminidase α-subunits and β-subunits, respectively. In Tay-Sachs disease, exce...

Abo-Ouf(Hatem),Hooper(Alexander W M),White... Hum Mol Genet 2014-03-18

...Hexb-/- mouse model of SD shows a progressive neurodegenerative phenotype similar to the human equivalent. Previous stud...

Jamali(Solmaz),Eskandari(Nasim),Aryani(Omi... Iran Biomed J 2014-10-30

...HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation.,In conclusion, with th...

Huang(Yonglan),Xie(Ting),Zheng(Jipeng),Zha... Zhonghua Er Ke Za Zhi 2014-10-30

To explore the clinical features and molecular mutation of HEXB gene in a case with juvenile Sandhoff disease.,We retros...