EC Number   |
General Information |
Reference |
|---|
   3.4.21.105 | malfunction |
ablation of Pcp1/Rbd1 activity has a profound effect on mitochondrial shape. Phenotype observed in Pcp1 knockout cells appears to be due to the selective loss of Mgm1p processing by Pcp1 |
710566 |
| 3.4.21.105 | malfunction |
functional studies in vivo have shown that approximately 90% of Rho-7 mutant flies that lack the transcriptional start site and the first 18 codons of the protease die before pupariation |
710566 |
| 3.4.21.105 | malfunction |
inhibition of RHBDL2 by 3,4-dichloroisocoumarin or short hairpin RNA significantly inhibits wound-induced thrombomodulin ectodomain shedding and wound healing |
717957 |
| 3.4.21.105 | malfunction |
loss of rhomboid blocks the induction of rhodopsin5 expression and misexpression of rhomboid leads to the inappropriate induction of rhodopsin5. Activated Epidermal Growth Factor Receptor is is sufficient to rescue the loss of Rh5 induction in a rhomboid mutant |
709633 |
| 3.4.21.105 | malfunction |
mice null for Parl do not show embryonic lethality and synaptic defects are not observed |
710566 |
| 3.4.21.105 | malfunction |
mice null for Parl do not show embryonic lethality and synaptic defects are not observed. Mice lacking Parl die between weeks 8 and 12 from cachexia sustained by multisystemic atrophy. Mitochondrial morphology and oxidative phosphorylation is not changed as seen in yeast knockout cells. Parl knockout cells are more susceptible to apoptosis |
710566 |
| 3.4.21.105 | malfunction |
muscle knockdown of PARL in mice results in malformed mitochondrial cristae, lower mitochondrial content, decreased PGC1alpha protein levels, and impaired insulin signaling. Suppression of PARL protein in healthy myotubes lowers mitochondrial mass and insulin-stimulated glycogen synthesis and increases reactive oxygen species production |
708039 |
| 3.4.21.105 | malfunction |
rhomboid is required for pattern formation in the ventral ectoderm, in which mutation causes a rhomboid-shaped head skeleton. This phenotype is due to the role of fly rhomboid in epidermal growth factor receptor signaling |
710565 |
| 3.4.21.105 | malfunction |
suppression of TgROM4 leads to decreased release of the adhesin MIC2 into the supernatant and concomitantly increases the surface expression of this and a subset of other adhesins. Suppression of TgROM4 results in disruption of normal gliding, with the majority of parasites twirling on their posterior ends. Parasites lacking TgROM4 bind better to host cells, but lose the ability to apically orient therefore invasion is severely impaired |
710403 |
| 3.4.21.105 | malfunction |
using optical coherence tomography to examine the cardiac function in adult Drosophila from a set of molecularly defined genomic deficiencies an abnormally enlarged cardiac chamber in a series of deficiency mutants spanning the rhomboid 3 locus are identified. It is demonstrated that rhomboid 3 mediated activation of the EGF receptor pathway is necessary for proper adult cardiac function |
710343 |
