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Hexosaminidase A

Known as: Hex A, Beta-N-acetylhexosaminidase.A, beta N Acetylhexosaminidase A 
A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits… 
National Institutes of Health

Related topics

Related topics

11 relations
HEXA geneHexosaminidase A fr SerIn BloodProcess of secretion

Papers overview

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Highly Cited
2010
Highly Cited
2010
Tay-Sachs disease in Jacob sheep.
2009
2009
N-acetyl-beta-D-hexosaminidase and its isoenzymes A and B in blood serum and urine, as a potential colon cancer markers.
BACKGROUND/AIMS Evaluation of N-acetyl-beta-D-hexosaminidase (HEX), and its isoenzymes A (HEX A) and B (HEX B) activity in blood… 
Highly Cited
1994
Highly Cited
1994
Expression and specificity of human GM2 activator protein.
The cDNA encoding GM2 activator was expressed in the Escherichia coli/pT7-7 system. The yield of the GM2 activator with greater… 
Highly Cited
1992
Highly Cited
1992
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to… 
Highly Cited
1991
Highly Cited
1991
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
Highly Cited
1986
Highly Cited
1986
Hexosaminidase A deficiency in adults.
Deficiency of hexosaminidase A (Hex A) in adults was found in 15 individuals from nine unrelated Ashkenazi families; 14… 
Highly Cited
1984
Highly Cited
1984
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Highly Cited
1982
Highly Cited
1982
Deficiency of the Hexosaminidase A Activator Protein in a Case of GM2 Gangliosidosis; Variant AB
Summary: A patient is described whose clinical course and pathologic features, including massive brain storage of GM2 ganglioside… 
Highly Cited
1976
Highly Cited
1976
Introduction of purified hexosaminidase A into Tay-Sachs leukocytes by means of immunoglobulin-coated liposomes.
To determine whether ligand-receptor interactions could engender the selective uptake by deficient cells of enzyme-laden… 
Highly Cited
1975
Highly Cited
1975
Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes
Two major and several minor isozymes of hexosaminidase (Hex) exist in human tissues. In Tay-Sachs disease Hex A is missing but… 
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