Ignet

Gene Information

Gene symbol: HEXA

Gene name: hexosaminidase A (alpha polypeptide)

HGNC ID: 4878

Related Genes

#	Gene Symbol	Number of hits
1	A1BG	1 hits
2	ACPP	1 hits
3	ALB	1 hits
4	ANPEP	1 hits
5	ARSH	1 hits
6	ATP5E	1 hits
7	B2M	1 hits
8	BTD	1 hits
9	C20orf181	1 hits
10	COL1A1	1 hits
11	COX8B	1 hits
12	CTSB	1 hits
13	CTSC	1 hits
14	CTSD	1 hits
15	GAA	1 hits
16	GGT1	1 hits
17	GM2A	1 hits
18	GPLD1	1 hits
19	HBB	1 hits
20	HEXB	1 hits
21	ICAM1	1 hits
22	INS	1 hits
23	LAP3	1 hits
24	LIPA	1 hits
25	MGEA5	1 hits
26	MSMB	1 hits
27	SELP	1 hits
28	SERPINE1	1 hits
29	SLC37A4	1 hits
30	SOD1	1 hits
31	VEGFA	1 hits

Related Sentences

#	PMID	Sentence
1	148980	Enyzmes included: neutral alpha-glucosidase, alpha-mannosidase, and lysosomal N-acetyl beta-glucosaminidase, beta-galactosidase, cathepsin C, acid alpha-glucosidase, and acid cholesteryl esterase.
2	148980	Acid phosphatase and N-acetyl beta-glucosaminidase activities were reduced markedly in histochemical studies of diabetic aortas at all time periods and were restored by insulin treatment.
3	148980	Enyzmes included: neutral alpha-glucosidase, alpha-mannosidase, and lysosomal N-acetyl beta-glucosaminidase, beta-galactosidase, cathepsin C, acid alpha-glucosidase, and acid cholesteryl esterase.
4	148980	Acid phosphatase and N-acetyl beta-glucosaminidase activities were reduced markedly in histochemical studies of diabetic aortas at all time periods and were restored by insulin treatment.
5	340293	Therefore, decreased tolerance to glucose load could not ba ascribed to deficient insulin secretion. 4) No abnormality of glucagon response to glucose load was found in the old. 5) Serum beta-N-acetylhexosaminidase activity was not increased in elderly subjects, again contrasting with the increased activity found in diabetics. 6) Both glycolytic and gluconeogenic enzyme activities were decreased in the liver of aged rats. 7) No specific abnromality in insulin secretory response was observed in Werner's syndrome which might be considered to be a model for aging.
6	657443	Enzymes included: neutral alpha-glucosidase, and lysosomal N-acetyl-beta-glucosaminidase, beta-galactosidase, cathepsin C, acid alpha-glucosidase, and acid cholesteryl esterase.
7	657443	After 6 or 12 weeks of hypertension, specific activities of all enzymes measured were significantly increased, levels ranging from 24% above normal for cathepsin C to 351% above normal for N-acetyl-beta-glucosaminidase.
8	657443	In every instance, histochemical studies of aortas showed acid phosphatase and N-acetyl-beta-glucosaminidase activities which corresponded to the biochemical findings.
9	657443	Enzymes included: neutral alpha-glucosidase, and lysosomal N-acetyl-beta-glucosaminidase, beta-galactosidase, cathepsin C, acid alpha-glucosidase, and acid cholesteryl esterase.
10	657443	After 6 or 12 weeks of hypertension, specific activities of all enzymes measured were significantly increased, levels ranging from 24% above normal for cathepsin C to 351% above normal for N-acetyl-beta-glucosaminidase.
11	657443	In every instance, histochemical studies of aortas showed acid phosphatase and N-acetyl-beta-glucosaminidase activities which corresponded to the biochemical findings.
12	657443	Enzymes included: neutral alpha-glucosidase, and lysosomal N-acetyl-beta-glucosaminidase, beta-galactosidase, cathepsin C, acid alpha-glucosidase, and acid cholesteryl esterase.
13	657443	After 6 or 12 weeks of hypertension, specific activities of all enzymes measured were significantly increased, levels ranging from 24% above normal for cathepsin C to 351% above normal for N-acetyl-beta-glucosaminidase.
14	657443	In every instance, histochemical studies of aortas showed acid phosphatase and N-acetyl-beta-glucosaminidase activities which corresponded to the biochemical findings.
15	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.
16	1269840	Studies have been carried out on activities of lysosomal beta-N-acetylhexosaminidase (hex), beta-galactosidase (beta-gal), alpha-glucosidase (alpha-glu), and acid phosphatase (AP) in serum and urine from patients with juvenile diabetes and matched controls.
17	1350991	STZ-SHR showed significant uraemia and proteinuria, plus increases in urinary gamma-glutamyl-transpeptidase and urinary N-acetyl-beta-glucosaminidase.
18	1695588	Serum type IV collagen levels were measured in 137 non-insulin-dependent diabetic patients (aged 50-75 yr) with or without clinical signs of retinopathy, nephropathy, and/or neuropathy and 110 healthy subjects (aged 50-75 yr) without serological abnormality.
19	1695588	Especially in the patients with diabetic nephropathy, serum type IV collagen levels became higher with elevation of blood urea nitrogen, serum creatinine, and serum beta 2-microglobulin but not urinary excretion of beta 2-microglobulin and N-acetyl-beta-glucosaminidase.
20	2190442	UAE values were positively correlated with age, GH secretion, but not with duration of disease, glycosylated hemoglobin, renal size or N-acetyl-beta-glucosaminidase excretion.
21	2190442	HLA DR3/DR4 heterozygosity frequency was significantly higher (p less than 0.01) in the microalbuminuric group than in the normoalbuminuric.
22	2190442	HLA DR3/DR4 heterozygosity, onset of disease at puberty and higher GH values, the probability of developing abnormal levels of UAE will increase.
23	2534889	Changes were determined in the activity of submandibular gland N-acetyl-beta-glucosaminidase from streptozotocin-induced diabetic and insulin-treated rats.
24	2534889	It is clear from these findings that the diabetic condition brings about an insulin-dependent increase in the activity of N-acetyl-beta-glucosaminidase in the rat submandibular gland, and imparts certain changes in the properties of the enzymatic proteins themselves.
25	2534889	Changes were determined in the activity of submandibular gland N-acetyl-beta-glucosaminidase from streptozotocin-induced diabetic and insulin-treated rats.
26	2534889	It is clear from these findings that the diabetic condition brings about an insulin-dependent increase in the activity of N-acetyl-beta-glucosaminidase in the rat submandibular gland, and imparts certain changes in the properties of the enzymatic proteins themselves.
27	2944395	The decreased latency of the lysosomal hydrolase, N-acetyl-beta-glucosaminidase, and the increased collagen deposition observed in the diabetic hearts were only partially reversed by the 4-wk insulin treatment, but completely reversed by the 8-wk treatment period.
28	2945627	With the exception of a reduction in the sedimentable (lysosome-associated) fraction of myocardial N-acetyl-beta-glucosaminidase and a decrease in sarcoplasmic reticulum K+, Ca++-stimulated ATPase activity, other characteristic indices of myocardial ischemic damage, notably inhibition of sarcolemmal and mitochondrial ATPase activities as well as alterations in the ionic composition of myocardial tissue, were not apparent in the hearts of the streptozotocin-diabetic animals.
29	3101378	In diabetic patients periodic acid Schiff positivity, acid phosphatase, and N-acetyl-beta-glucosaminidase activities of lymphocytes are fairly impaired, particularly in insulin-dependent diabetes.
30	3101378	In patients with newly diagnosed insulin-dependent diabetes we have found a further decrease in alpha-naphthyl-acetate-esterase activity, and an increase in acid phosphatase and N-acetyl-beta-glucosaminidase activities.
31	3101378	In diabetic patients periodic acid Schiff positivity, acid phosphatase, and N-acetyl-beta-glucosaminidase activities of lymphocytes are fairly impaired, particularly in insulin-dependent diabetes.
32	3101378	In patients with newly diagnosed insulin-dependent diabetes we have found a further decrease in alpha-naphthyl-acetate-esterase activity, and an increase in acid phosphatase and N-acetyl-beta-glucosaminidase activities.
33	3310657	Activities of cathepsin B and N-acetyl-beta-glucosaminidase, but not cathepsin D, were elevated in the soleus muscles of clenbuterol-treated rats.
34	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.
35	6114940	Urine and serum leucine aminopeptidase, N-acetyl-beta-glucosaminidase and gamma-glutamyl transpeptidase activities in diabetics with and without nephropathy.
36	6114940	Urinary and serum activities of leucine aminopeptidase (LAP), N-acetyl-beta-glucosaminidase (ABG) and gamma-glutamyl transpeptidase (GGTP) were determined in four groups: 1) control subjects with normal oral glucose tolerance test and normal renal function; 2) latent diabetics with elevated oral glucose tolerance test and diabetic parents; 3) overt diabetics; 4) diabetics with slight nephropathy, exemplified by elevated serum creatinine levels and decreased creatinine clearance.
37	6114940	Urine and serum leucine aminopeptidase, N-acetyl-beta-glucosaminidase and gamma-glutamyl transpeptidase activities in diabetics with and without nephropathy.
38	6114940	Urinary and serum activities of leucine aminopeptidase (LAP), N-acetyl-beta-glucosaminidase (ABG) and gamma-glutamyl transpeptidase (GGTP) were determined in four groups: 1) control subjects with normal oral glucose tolerance test and normal renal function; 2) latent diabetics with elevated oral glucose tolerance test and diabetic parents; 3) overt diabetics; 4) diabetics with slight nephropathy, exemplified by elevated serum creatinine levels and decreased creatinine clearance.
39	6266905	Methods for the measurement of the lysosomal enzymes acid cholesterol-ester hydrolase and N-acetyl-beta-glucosaminidase were adapted for use with freshly isolated circulating mononuclear cells.
40	6323532	Glucagon receptor levels, glucagon-stimulated and other forms of adenylyl cyclase activity, and regulatory component activity of adenylyl cyclase were determined in hepatic plasma membranes of rats administered streptozotocin without and with insulin to produce varying degrees of hyperglycemia.
41	6323532	In rats given 150 mg streptozotocin, glucagon stimulation of adenylyl cyclase as well as basal, sodium fluoride, 5' guanylylimidodiphosphate [GMP-P(NH)P] and Mn-dependent activities were reduced 50%, glucagon receptor levels but not affinity were reduced 67%, and regulatory component activity was decreased 50%.
42	6323532	DNA, cytochrome c oxidase, glucose-6-phosphatase, and N-acetyl-beta-glucosaminidase content in hepatic plasma membrane preparations were not substantially different in diabetic as compared with control animals.
43	6323532	The data demonstrate that glucagon-mediated regulation of cyclic AMP formation is deranged in insulin deficiency owing to a combined decrease in receptors, derangement of the coupling mechanism intervening between receptor and adenylyl cyclase, and possibly, an altered basal effector system.
44	6780237	The hearts were excised, homogenized, and the following enzymatic activities measured: N-Acetyl-beta-glucosaminidase, N-acetyl-beta-galactosaminidase, beta-glucosaminidase, aryl sulphatase, alpha-mannosidase, alpha-glucosidase, beta-galactosidase, beta glucosidase, total p-nitrophenyl phosphatase, acid phosphatase and 5'-phosphodiesterase type IV.
45	7421126	Following anesthesia, the hearts were excised, homogenized, and the following enzymatic activities measured: N-acetyl-beta-glucosaminidase, N-acetyl-beta-galactosaminidase, beta-glucosaminidase, aryl sulfatase, alpha-mannosidase, alpha-glucosidase, beta-galactosidase, beta-glucosidase, total rho-nitrophenyl phosphatase, acid phosphatase. and 5'-phosphodiesterase type IV.
46	7421126	All enzyme activity is depressed significantly during the 9- to 21-week interval: alpha-glucosidase, beta-glucosidase, alpha-mannosidase, beta-galactosidase, acid phosphatase, N-acetyl-beta-galactosaminidase, 5'-phosphodiesterase type IV, and total rho-nitrophenyl phosphatase are reduced approximately 10 to 20 per cent, whereas beta-glucosaminidase, aryl sulfatase, and N-acetyl-beta-glucosaminidase are decreased almost 40 to 50 per cent.
47	7421126	Following anesthesia, the hearts were excised, homogenized, and the following enzymatic activities measured: N-acetyl-beta-glucosaminidase, N-acetyl-beta-galactosaminidase, beta-glucosaminidase, aryl sulfatase, alpha-mannosidase, alpha-glucosidase, beta-galactosidase, beta-glucosidase, total rho-nitrophenyl phosphatase, acid phosphatase. and 5'-phosphodiesterase type IV.
48	7421126	All enzyme activity is depressed significantly during the 9- to 21-week interval: alpha-glucosidase, beta-glucosidase, alpha-mannosidase, beta-galactosidase, acid phosphatase, N-acetyl-beta-galactosaminidase, 5'-phosphodiesterase type IV, and total rho-nitrophenyl phosphatase are reduced approximately 10 to 20 per cent, whereas beta-glucosaminidase, aryl sulfatase, and N-acetyl-beta-glucosaminidase are decreased almost 40 to 50 per cent.
49	7550345	Through disruption of the Hexa and Hexb genes in embryonic stem cells, we have established mouse models corresponding to each disease.
50	7640495	The total effective rate in treated and control group were 83.87% and 31.03%(P < 0.01), urinary micro-albumin were 31.7 mg/L and 76.3 mg/L (P < 0.05), proteinuria were 0.41 g/24h and 0.77 g/24h (P < 0.01), blood beta 2-microglobulin were 3317.8 ng/ml and 3473.1 ng/ml (P < 0.05), urinary beta 2-microglobulin were 367.2 ng/ml and 641.5 ng/ml (P < 0.01), urinary N-acetyl-beta-glucosaminidase (NAG) were 26.3 u/L and 66.7 u/L (P < 0.01), plasma lipid peroxide (LPO) were 6.13 nmol/L and 8.78 nmol/L (P < 0.05), and plasma superoxide anion were 8.36 kcpm and 10.42 kcpm respectively (P < 0.05).
51	7709167	Plasma homocysteine in the whole population (n = 76) was related to B-Folate (r = 0.38, p < 0.01), S-Creatinine (r = 0.55, p < 0.001), S-Urea (r = 0.37, p < 0.01), U-Albumin (r = 0.46, p < 0.001), urinary N-acetyl-beta- glucosaminidase (r = 0.40, p < 0.001), systolic blood pressure (r = 0.36, p < 0.01) and diabetes duration (r = 0.44, p < 0.001).
52	7713516	Mutations in the human GM2 activator protein gene (GM2A) result in the GM2 gangliosidosis AB variant, a severe neurological disease.
53	7791518	Under the present conditions, N-acetyl-beta-glucosaminidase release and superoxide generation, which are known to be dependent on phospholipase D activation, were higher in the cells from diabetic rats than those in the cells from control rats.
54	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
55	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
56	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
57	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
58	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.
59	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
60	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
61	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
62	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
63	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
64	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
65	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.
66	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
67	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
68	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
69	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
70	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
71	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
72	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.
73	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
74	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
75	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
76	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
77	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
78	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
79	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.
80	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
81	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
82	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
83	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
84	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
85	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
86	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.
87	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
88	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
89	7959736	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.
90	7959736	Two genes, HEXA and HEXB, encode the alpha- and beta-subunits, respectively, of human beta-hexosaminidase.
91	7959736	In the mouse, the corresponding genes are termed Hexa and Hexb.
92	7959736	Mutations in the HEXA or HEXB gene resulting in a beta-hexosaminidase deficiency cause Tay-Sachs or Sandhoff disease, respectively.
93	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.
94	7959736	The Hexa and Hexb genes were 25 and 22 kb in length, respectively.
95	7959736	Several putative promoter elements were present, including Sp1, AP2, CAAT, and TATA motifs.
96	7988055	Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
97	7988055	We investigated activities of serum N-acetyl-beta-glucosaminidase (NAG), tissue plasminogen activator and erythrocyte superoxide dismutase in well defined groups of type 1 diabetic patients.
98	7988055	Early changes of serum N-acetyl-beta-glucosaminidase, tissue plasminogen activator and erythrocyte superoxide dismutase in relation to retinopathy in type 1 diabetes mellitus.
99	7988055	We investigated activities of serum N-acetyl-beta-glucosaminidase (NAG), tissue plasminogen activator and erythrocyte superoxide dismutase in well defined groups of type 1 diabetic patients.
100	8591705	Increased urinary N-acetyl-beta-glucosaminidase (NAG) excretion in young insulin-dependent diabetic patients.
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	8634145	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
120	8634145	Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
121	8634145	The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
122	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.
123	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.
124	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.
125	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.
126	8634145	No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
127	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.
128	8634145	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
129	8634145	Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
130	8634145	The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
131	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.
132	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.
133	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.
134	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.
135	8634145	No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
136	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.
137	8634145	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
138	8634145	Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
139	8634145	The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
140	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.
141	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.
142	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.
143	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.
144	8634145	No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
145	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.
146	8634145	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
147	8634145	Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
148	8634145	The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
149	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.
150	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.
151	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.
152	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.
153	8634145	No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
154	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.
155	8634145	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.
156	8634145	Human lysosomal beta-hexosaminidases are encoded by two genes, HEXA and HEXB, specifying an alpha- and a beta-subunit, respectively.
157	8634145	The subunits dimerize to form beta-hexosaminidase A (alpha beta), beta-hexosaminidase B (beta beta), and beta-hexosaminidase S (alpha alpha).
158	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.
159	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.
160	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.
161	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.
162	8634145	No sequence similarity was found, however, between 5'-flanking regions of the HEXA and HEXB genes.
163	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.
164	8896570	The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
165	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).
166	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.
167	8896570	The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
168	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).
169	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.
170	8896570	The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively.
171	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).
172	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.
173	9133258	Comparison of urinary albumin, retinol-binding protein and N-acetyl beta-glucosaminidase as predictors of progression of low level albuminuria in diabetes.
174	9156561	Urinary biotinidase and alanine excretion in patients with insulin-dependent diabetes mellitus.
175	9156561	Twenty-four-hour urine specimens from 21 juvenile insulin-dependent diabetics and 10 healthy controls were compared with respect to biotinidase activity and alanine content.
176	9156561	Biotinidase excretion in diabetics was correlated with alanine excretion (rS = 0.667; p < 0.01), but not with protein, albumin or N-acetyl-beta-glucosaminidase excretion.
177	9223328	Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
178	9223328	We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
179	9223328	The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
180	9223328	Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
181	9223328	We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
182	9223328	The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
183	9223328	Tay-Sachs and Sandhoff diseases are caused by mutations in the genes (HEXA and HEXB) encoding the subunits of beta-hexosaminidase A.
184	9223328	We previously have described mouse models of Tay-Sachs (Hexa -/-) and Sandhoff (Hexb -/-) diseases with vastly different clinical phenotypes.
185	9223328	The Hexa -/- mice were asymptomatic whereas the Hexb -/- mice were severely affected.
186	9438099	Urinary activity of N-acetyl-beta-glucosaminidase and progression of retinopathy in non-insulin-dependent diabetes mellitus.
187	9524787	Urinary N-acetyl-beta-glucosaminidase excretion in non-insulin-dependent diabetes mellitus: relation with diabetic nephropathy.
188	9678681	Urinary pancreatic stone protein (PSP) levels were measured in 68 diabetic patients and 170 healthy controls to investigate the relationship between the progression of diabetic nephropathy and PSP excretion.
189	9678681	Urinary albumin, N-acetyl-beta-glucosaminidase (NAG), alpha1-microglobulin, creatinine clearance, and the blood PSP level were also determined in the diabetic patients.
190	9678681	In patients with normoalbuminuria (urinary albumin <20 mg/gCr, n=31), microalbuminuria (20-200 mg/Cr, n=19), and macroalbuminuria (>200 mg/gCr, n=18), the mean urinary PSP level was 347, 507, and 860 microg/gCr, respectively.
191	11522496	Serum N-acetyl-beta-glucosaminidase (NAG) activity, serum E-selectin, and ICAM-1 concentrations were used as biochemical markers of endothelial dysfunction.
192	15189781	The significant decrease in serum total and LDL-cholesterol concentrations (P<0.0001) caused by simvastatin was associated with an increase in serum N-acetyl-beta-glucosaminidase activity (P<0.001), ascorbic acid (P<0.001), plasminogen activator inhibitor (PAI-1) (P<0.01), vonWillebrand factor (P<0.05), E-selectin (P<0.01) and vascular endothelial growth factor (P<0.05) concentrations and with a decrease in plasma glutathione (P<0.01) levels.
193	15189781	Fenofibrate caused a significant decrease in serum triglyceride concentration (P<0.0001) associated with a decrease in plasma malondialdehyde (P<0.001) and an increase in plasma PAI-1 (P<0.05) and P-selectin (P<0.05) concentrations.
194	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.
195	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.
196	16568991	Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
197	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.
198	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.
199	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.
200	16568991	Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
201	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.
202	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.
203	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.
204	16568991	Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
205	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.
206	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.
207	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.
208	16568991	Gratifyingly, this altered small molecule was demonstrated to be a potent substrate for O-GlcNAcase while possessing no activity at hexosaminidase A.
209	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.
210	17223725	Fibrinolysis was estimated by tissue plasminogen activator (tPA) and its inhibitor (PAI-1).
211	17223725	N-acetyl-beta-glucosaminidase, E-selectin, P-selectin, and ICAM-1 were used as markers of endothelial function.
212	23105632	Albumin and enzymes-N-acetyl-beta-glucosaminidase (NAG) and gamma glutamyl transferase (GGT) were estimated in the morning random urine samples of 196 albustix negative diabetic patients to evaluate the clinical utility of these urinary enzymes as early markers of diabetic nephropathy.
213	23105632	The study suggests that urinary NAG or GGT or both together do not have any clinical significance as an early marker of diabetic nephropathy.