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Literature summary extracted from

  • Tropak, M.B.; Mahuran, D.
    Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells (2007), FEBS J., 274, 4951-4961.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
3.2.1.52 medicine enzyme enhancement therapy utilizing small molecules as pharmacological chaperones is a promising therapeutic approach to treat late-onset forms of Tay-Sachs disease and Sandhoff disease, as well as other lysosomal storage diseases Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
3.2.1.52 (1E)-2-nitro-1H-indene-1,3(2H)-dione oxime
-
 Homo sapiens
3.2.1.52 2,2'-(iminodiethane-2,1-diyl)bis(1H-benzo[de]isoquinoline-1,3(2H)-dione)
-
 Homo sapiens
3.2.1.52 2-(4-chlorobenzyl)-5-methyl-2,6-dihydro-1H-pyrrolo[3,4-d]pyridazin-1-one
-
 Homo sapiens
3.2.1.52 2-amino-6-(methoxymethyl)pyrimidin-4-ol
-
 Homo sapiens
3.2.1.52 elinafide
-
 Homo sapiens
3.2.1.52 N-acetylglucosamine thiazoline
-
 Homo sapiens
3.2.1.52 pyrimethamine
-
 Homo sapiens
3.2.1.52 thioguanine
-
 Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.2.1.52 additional information Homo sapiens mutations in the evolutionarily related HEXA or HEXB genes, which encode the alpha- or beta-subunits of heterodimeric beta-hexosaminidase A, are associated with Tay-Sachs or Sandhoff disease, respectively. The majority of HEXA and HEXB mutations prevent any Hex A from being formed and result in the infantile/acute form of Tay-Sachs (ITSD) or Sandhoff (ISD) disease. These are devastating neurodegenerative diseases that result in death by the age of 4 years ?
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.2.1.52 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.2.1.52 4-methylumbelliferyl beta-N-acetylglucosamine + H2O
-
 Homo sapiens ?
-
 ?
3.2.1.52 additional information mutations in the evolutionarily related HEXA or HEXB genes, which encode the alpha- or beta-subunits of heterodimeric beta-hexosaminidase A, are associated with Tay-Sachs or Sandhoff disease, respectively. The majority of HEXA and HEXB mutations prevent any Hex A from being formed and result in the infantile/acute form of Tay-Sachs (ITSD) or Sandhoff (ISD) disease. These are devastating neurodegenerative diseases that result in death by the age of 4 years Homo sapiens ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.2.1.52 beta-hexosaminidase
-
 Homo sapiens

Ki Value [mM]

EC Number Ki Value [mM] Ki Value maximum [mM] Inhibitor Comment Organism Structure
3.2.1.52 0.0008
-
 2,2'-(iminodiethane-2,1-diyl)bis(1H-benzo[de]isoquinoline-1,3(2H)-dione)
-
 Homo sapiens
3.2.1.52 0.0061
-
 (1E)-2-nitro-1H-indene-1,3(2H)-dione oxime
-
 Homo sapiens
3.2.1.52 0.0061
-
 N-acetylglucosamine thiazoline
-
 Homo sapiens
3.2.1.52 0.013
-
 pyrimethamine
-
 Homo sapiens

IC50 Value

EC Number IC50 Value IC50 Value Maximum Comment Organism Inhibitor Structure
3.2.1.52 0.008
-
-
 Homo sapiens pyrimethamine
3.2.1.52 0.025
-
-
 Homo sapiens 2-amino-6-(methoxymethyl)pyrimidin-4-ol
3.2.1.52 0.042
-
-
 Homo sapiens elinafide
3.2.1.52 0.13
-
-
 Homo sapiens thioguanine
3.2.1.52 6
-
-
 Homo sapiens 2,2'-(iminodiethane-2,1-diyl)bis(1H-benzo[de]isoquinoline-1,3(2H)-dione)
3.2.1.52 27
-
-
 Homo sapiens (1E)-2-nitro-1H-indene-1,3(2H)-dione oxime
3.2.1.52 29
-
-
 Homo sapiens 2-(4-chlorobenzyl)-5-methyl-2,6-dihydro-1H-pyrrolo[3,4-d]pyridazin-1-one