Point mutation
The HEXA gene makes part of an enzyme called beta-hexosaminidase A, which plays a critical role in the nervous system. This ... Mutations in the HEXA gene disrupt the activity of beta-hexosaminidase A, preventing the breakdown of the fatty substances. As ...
N-acetyl-β-d-glucosaminidase
EC 3.2.1.52 refers to β-n-acetyl-hexosaminidase, a 4-enzyme family that has the ability to hydrolyze terminal non-reducing n- ... EC 3.2.1.52 refer to β-n-acetyl-hexosaminidase, a complex of 4 enzymes including n-acetyl-β-d-glucosaminidase. The various ...
Jacob sheep
In 2008, researchers in Texas identified the hexosaminidase A deficiency known in humans as Tay-Sachs disease in four Jacob ...
Enzyme
... in which patients lack the enzyme hexosaminidase. One example of enzyme deficiency is the most common type of phenylketonuria. ...
Maclyn McCarty
... a hexosaminidase) from a soil organism. Treating the polysaccharide with this enzyme abrogated its serological reactivity. ...
O-GlcNAc
As PUGNAc also inhibits lysosomal β-hexosaminidases, the OGA-selective inhibitor NButGT was developed to further probe the ...
Ganglioside
For example, the fatal Tay-Sachs disease arises as a genetic defect which leads to no functional hexosaminidase A produced, ...
List of MeSH codes (D08)
... hexosaminidases MeSH D08.811.277.450.483.021 - acetylglucosaminidase MeSH D08.811.277.450.483.044 - alpha-N- ...
List of diseases (H)
X-linked Hexosaminidases A and B deficiency HHH syndrome Hibernian fever, familial Hiccups Hidradenitis suppurativa familial ...
Immunological synapse
... β-hexosaminidase) and other cytolytic effector proteins. Once these proteins are delivered to the target cell, they induce its ...
Chromosome 5
... hexosaminidase B (beta polypeptide) HMGXB3: encoding protein HMG-box containing 3 IK: Protein Red IRX1: Iroquois-class ...
Frameshift mutation
Mutations in the β-hexosaminidase A (Hex A) gene are known to affect the onset of Tay-Sachs, with 78 mutations of different ...
Apical dendrite
... a GM2 accumulation due to defective beta-hexosaminidase. Visible in this disorder are large mega-neurite formations. It has ...
Lysosomal storage disease
Sandhoff disease Infantile Juvenile Adult onset Tay-Sachs Juvenile hexosaminidase A deficiency Chronic hexosaminidase A ...
Chromosome 15
... hexosaminidase A (alpha polypeptide)(Tay-Sachs disease) HMG20A: encoding protein High mobility group protein 20A IDDM3 encoding ...
Ethyl glucuronide
... β-hexosaminidase, mitochondrial AST levels, and alcohol metabolites such as erythrocyte acetaldehyde and acetaldehyde adducts. ...
Mast cell
... β-Hexosaminidase, cytokines, chemokines, PGD2, leukotrienes, and eoxins). FcεR1 is a high affinity IgE-receptor that is ... lysosomal enzymes β-hexosaminidase β-glucuronidase arylsulfatases newly formed lipid mediators (eicosanoids): thromboxane ...