EC Number   |
Application |
Reference |
|---|
    4.3.2.2 | drug development |
as Leishmania species lack the de novo pathway and are dependent on the salvage pathway to supply their purine requirements, LbASL could thus represent a drug target for the development of chemical agents to treat leishmaniasis |
749293 |
| 4.3.2.2 | medicine |
adenylosuccinate lyase deficiency causes serious neurological and physiological symptoms |
681945 |
| 4.3.2.2 | medicine |
generation of in vitro hybrids that mimic compound heterozygote ASL for studies on disease-associated mutant enzymes. His-tagged wild-type/non-His-tagged wild-type, His-tagged wild-type/non-His-tagged R396C, His-tagged wild-type/non-His-tagged R396H, His-tagged R194C/non-His-tagged R396C, and His-tagged L311V/non-His-tagged R396H enzyme pairs are used in various hybrids generated by denaturing pairs of enzymes in 1 M guanidinium chloride and renaturing them by removing the denaturant. The hybrids have predominant amounts of heterotetramers. Analysis of the Vmax values of the hybrids indicates that most of the subunits behave independently. However, the hybrid tetramers retain weak positive cooperativity |
714232 |
| 4.3.2.2 | more |
participates in the purine biosynthetic pathway, enzyme defects result in psychomotor retardation, epilepsy, muscle wasting and autistic features |
664255 |
