Regular ArticleStructure and Expression of the Mouse β-Hexosaminidase Genes, Hexa and Hexb
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Functional evaluation of yuzu (Citrus junos) extracts containing limonoids and polyamine for life extension
2017, Journal of Functional FoodsCitation Excerpt :Mutations in the HEXA gene cause Tay-Sachs disease, whereas mutations in the HEXB gene cause SD (Neufeld, 1991). Mice with disruptions of the Hexb gene develop SD-like illnesses and they can be a useful model for investigating the pathophysiology of SD (Phaneuf et al., 1996; Sango et al., 1995; Yamanaka, Johnson, Norflus, Boles, & Proia, 1994). Neurological dysfunction is the major clinical manifestation of GM2 gangliosidosis and it is closely correlated to the severity of the illness.
Accumulated α-synuclein affects the progression of GM2 gangliosidoses
2016, Experimental NeurologyCitation Excerpt :Mutations in the HEXA gene cause Tay-Sachs disease, whereas mutations in the HEXB gene cause Sandhoff disease (SD) (Neufeld, 1991). Mice with disruptions in the Hexb gene develop SD-like illnesses and could be a useful model for investigating SD pathophysiology (Phaneuf et al., 1996; Sango et al., 1995; Yamanaka et al., 1994). Neurological dysfunction is the major clinical manifestation of GM2 gangliosidosis and is closely correlated with illness severity.
TSPO in a murine model of Sandhoff disease: Presymptomatic marker of neurodegeneration and disease pathophysiology
2016, Neurobiology of DiseaseCitation Excerpt :β-Hexosaminidase is formed by the dimerization of two subunits, α- and β-subunits to form β-hexosaminidase A (αβ) or two β subunits to form β-hexosaminidase B (ββ). In the mouse model of SD, the gene encoding for the β subunit of β-hexosaminidase (Hexb) is disrupted, resulting in the deficiency of both β-hexosaminidase A and B (Yamanaka et al., 1994). This deficiency leads to impaired degradation and subsequent accumulation of GM2 and GA2 gangliosides in neurons (Sango et al., 1995; Jeyakumar et al., 2002; Mahuran, 1999), resulting in severe neurodegeneration in the brain (Wada et al., 2000).
Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase β-subunit deficiency
2009, Molecular Genetics and MetabolismMolecular cloning and functional characterization of β-N-acetylglucosaminidase genes from Sf9 cells
2006, Protein Expression and PurificationAn inversion of 25 base pairs causes feline G<inf>M2</inf> gangliosidosis variant 0
2004, Experimental NeurologyCitation Excerpt :The 25-base-pair inversion in fGM2Baker cats introduces three amino acid substitutions at the carboxyl terminus of the hexosaminidase β-subunit and a translational stop that is eight amino acids premature (Fig. 2d). By comparing the intron–exon boundaries of human and mouse HEXB(Neote et al., 1988; Triggs-Raine et al., 1994; Yamanaka et al., 1994) to the normal Korat HEXB sequence (Muldoon et al., 1994), we designed primers to amplify the terminal exon (exon 14), which contains the fGM2Baker inversion. As shown in Fig. 3, genomic DNA amplification and sequencing confirmed that the 25-base-pair inversion occurs only in cats affected with GM2 gangliosidosis.