# |
PMID |
Sentence |
1 |
851488
|
For example in serum of patients with juvenile diabetes mellitus there is a characteristic elevation of hexosaminidase B and less consistently, of hexosaminidase A.
|
2 |
2971039
|
The synthesis and dimerization of beta-chains during the formation of catalytically active beta-hexosaminidase B were studied in a cell-free system. beta-chain mRNA, transcribed from the cloned cDNA with SP6 polymerase, was translated in a rabbit reticulocyte protein-synthesizing system in the presence of dog pancreas microsomal membranes and oxidized glutathione.
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3 |
6094290
|
Inhibition of insulin degrading activity (IDA) during chloroquine therapy was associated with reductions in the leukocyte lysosomal enzymes alpha-galactosidase and hexosaminidase-A but not hexosaminidase-B and beta-glucuronidase.
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4 |
7550345
|
Through disruption of the Hexa and Hexb genes in embryonic stem cells, we have established mouse models corresponding to each disease.
|
5 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
6 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
7 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
8 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
9 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
10 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
11 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
12 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
13 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
14 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
15 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
16 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
17 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
18 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
19 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
20 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
21 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
22 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
23 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
24 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
25 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
26 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
27 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
28 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
29 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
30 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
31 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
32 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
33 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
34 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
35 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
36 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
37 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
38 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
39 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
40 |
7959736
|
Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
|
41 |
7959736
|
Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
|
42 |
7959736
|
In the mouse, the corresponding genes are termed Hexa and Hexb.
|
43 |
7959736
|
Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
|
44 |
7959736
|
Protein sequences derived from the cloned Hexa and Hexb cDNAs were 55% identical to each other and were also very similar to the cognate human sequences: 84% sequence identity with human HEXA and 75% with HEXB.
|
45 |
7959736
|
The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
|
46 |
7959736
|
Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
|
47 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
48 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
49 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
50 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
51 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
52 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
53 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
54 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
55 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
56 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
57 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
58 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
59 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
60 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
61 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
62 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
63 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
64 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
65 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
66 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
67 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
68 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
69 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
70 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
71 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
72 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
73 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
74 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
75 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
76 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
77 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
78 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
79 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
80 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
81 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
82 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
83 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
84 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
85 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
86 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
87 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
88 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
89 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
90 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
91 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
92 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
93 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
94 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
95 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
96 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
97 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
98 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
99 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
100 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
101 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
102 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
103 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
104 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
105 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
106 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
107 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
108 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
109 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
110 |
8634145
|
Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
|
111 |
8634145
|
Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
|
112 |
8634145
|
The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
|
113 |
8634145
|
Mutations in either the HEXA gene or HEXB gene lead to an accumulation of GM2 ganglioside in neurons, resulting in the severe neurodegenerative disorders termed the GM2 gangliosidoses.
|
114 |
8634145
|
This area contained two potential estrogen response element half-sites as well as potential binding sites for transcription factors NF-E1 and AP-2.
|
115 |
8634145
|
By performing scanning mutagenesis on a 60-bp region within the 150-bp HEXB construct, we defined an essential promoter element of 12 bp that contained two potential AP-1 sites.
|
116 |
8634145
|
The mouse Hexa and Hexb 5'-flanking sequences were found to contain regions similar in sequence, location, and activity to the essential promoter elements defined in the cognate human genes.
|
117 |
8634145
|
No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
|
118 |
8634145
|
These essential promoter elements represent potential sites for HEXA and HEXB mutations that could alter enzyme expression in Tay-Sachs and Sandhoff diseases, respectively.
|
119 |
8896570
|
The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
|
120 |
8896570
|
Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
|
121 |
8896570
|
In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
|
122 |
8896570
|
The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
|
123 |
8896570
|
Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
|
124 |
8896570
|
In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
|
125 |
8896570
|
The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
|
126 |
8896570
|
Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta beta) and S (alpha alpha).
|
127 |
8896570
|
In this study, we have produced mice that have both Hexa and Hexb genes disrupted through interbreeding Tay-Sachs (Hexa-/-) and Sandhoff (Hexb-/-) disease model mice.
|
128 |
9223328
|
Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
|
129 |
9223328
|
We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
|
130 |
9223328
|
The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
|
131 |
9223328
|
Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
|
132 |
9223328
|
We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
|
133 |
9223328
|
The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
|
134 |
9223328
|
Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
|
135 |
9223328
|
We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
|
136 |
9223328
|
The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
|
137 |
16568991
|
A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
|
138 |
16568991
|
While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
|
139 |
16568991
|
Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
|
140 |
16568991
|
This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
|
141 |
16568991
|
A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
|
142 |
16568991
|
While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
|
143 |
16568991
|
Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
|
144 |
16568991
|
This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
|
145 |
16568991
|
A novel analogue of PUGNAc, a potent O-GlcNAcase inhibitor, was synthesized and analyzed as an inhibitor of O-GlcNAcase, hexosaminidase A, and hexosaminidase B.
|
146 |
16568991
|
While PUGNAc does not demonstrate selective inhibition of these related enzymes, the extension of the acetyl moiety to the longer butyl chain provided a compound with depressed inhibition of O-GlcNAcase and no observed inhibition of either hexosaminidase A or hexosaminidase B.
|
147 |
16568991
|
Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
|
148 |
16568991
|
This reagent provides, for the first time, a means for monitoring O-GlcNAcase activity independent of the related enzymes hexosaminidase A and hexosaminidase B.
|
149 |
21678470
|
In addition to previously reported differentially expressed molecules, more than 20 altered proteins previously unknown to be involved with adipogenic process were firstly revealed (e.g., HEXB, DPP7, PTTG1IP, PRDX5, EPDR1, SPNB2, STEAP3, TPP1, etc.).
|