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Literature summary for 3.2.1.52 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
Search for more literature for 3.2.1.52

Application

Application Comment Organism
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

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

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-methylumbelliferyl beta-N-acetylglucosamine + H2O
-
 Homo sapiens ?
-
 ?
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

Synonyms Comment Organism
beta-hexosaminidase
-
 Homo sapiens

Ki Value [mM]

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

IC50 Value

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