Pub. Date : 2009 Dec
PMID : 19812251
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover. | Guanosine Triphosphate | kinesin family member 1B | Homo sapiens |
| 2 | One mutation (analogous to the CMT2A I213T substitution in the GTPase domain of Mfn2) not only abolishes GTP hydrolysis and mitochondrial membrane fusion but also reduces Mdm30-mediated ubiquitylation and degradation of the mutant protein. | Guanosine Triphosphate | kinesin family member 1B | Homo sapiens |
| 3 | These studies identify diverse and unexpected effects of CMT2A mutations, including a possible role for mitofusin ubiquitylation and degradation in CMT2A pathogenesis, and provide evidence for a novel link between Fzo1 GTP hydrolysis, ubiquitylation, and mitochondrial fusion. | Guanosine Triphosphate | kinesin family member 1B | Homo sapiens |