| All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. |
| The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation. |
| Protein modeling demonstrated that the missense mutation is damaging and may alter binding to ATP molecules. |
| Using missense mutants to test the ability of Hsp60 and Hsp70 chaperones to rescue misfolded proteins. |
| Thus, MGCD265 inhibits signaling through both wild type and mutant forms of Met and may benefit patients with cancers in which Met is activated due to missense mutations. |
| Structural analysis of missense mutations causing isolated sulfite oxidase deficiency. |
