EC Number   |
General Information |
Reference |
|---|
   3.4.19.12 | malfunction |
10-week-old K256E-ACTN4pod+/UCHL1-/- mice exhibit reduced albuminuria, glomerulosclerosis, foot process effacement, glomerular basement membrane thickening, glomerular and tubular cell apoptosis, and ameliorated renal pathology. Observations coincide with decreased polyubiquitinated protein levels and increased K256E-alpha-actinin-4 levels in K256E-ACTN4pod+/UCHL1-/-mice kidneys, suggesting impaired proteolysis of K256E-alpha-actinin-4 |
731353 |
| 3.4.19.12 | malfunction |
altered UCH-L1 activity leads to deleterious effects on synapse structure and function. Inhibition of UCH-L1 activity affects synaptic protein clusters |
709638 |
| 3.4.19.12 | malfunction |
deficiency of UCH-L1 leads to vulnerability to lipid peroxidation both in vivo and in vitro |
-, 710082 |
| 3.4.19.12 | malfunction |
elevation in UCH-L1 in cystic fibrosis cells represents a cellular adaptation to counterbalance excessive proteasomal degradation |
709086 |
| 3.4.19.12 | malfunction |
gain- and loss of-function studies reveals that UCH-L1 enhances proliferation of multiple cell types |
732093 |
| 3.4.19.12 | malfunction |
gene knockdown of UCHL1 by siRNA results in a significant decrease in cell proliferation but marked acceleration of cell differentiation and myotube formation. UCHL1 gene knockdown upregulates myogenic factors myoD and Myogenin (MyoG) |
752667 |
| 3.4.19.12 | malfunction |
human UCHL1 gene and neurological diseases, wild-type and mutants I93M and S18Y, mutation I93M is proposed as a familial Parkinsons disease mutation, PARK5, detailed overview |
710451 |
| 3.4.19.12 | malfunction |
in the absence of UCH-L1, synaptic transmission at the neuromuscular junctions is markedly impaired. Loss of normal UCH-L1 activity may result in neurodegeneration in the peripheral nervous system |
710428 |
| 3.4.19.12 | malfunction |
increased oxidative carbonyl modification of UCH-L1 causes dysfunction of UCH-L1 and finally induces neuron death |
709780 |
| 3.4.19.12 | malfunction |
increased UCH-L1 protein, together with the corresponding changes of Jab1, is detected in morphologically abnormal oocytes of prepubertal ovaries |
-, 710568 |
