Sentence examples for disease causing mutant from inspiring English sources
Integrating diverse biomedical and genomic data types can facilitate hypotheses synthesis about disease causing mutant genes.
Open image in new window Figure 5 Wild-type parkin, but not disease causing mutants, ubiquitinates p62.
These data demonstrate that the ubiquitination of p62 is specifically mediated by parkin, while the disease causing mutants that have impaired E3 ligase activity fail to ubiquiniate p62 for its subsequent degradation (Fig. 5F).
Despite the link between SOD1 and fALS and the identification of over 150 disease causing mutants, the molecular events leading to disease remain poorly understood.
(D) Wild-type, but not disease causing parkin mutants, reduces p62 levels.
Brief stimulation of PC12 cells expressing the disease causing Rab7 Cmutantstants with NGF did not significantly affect Akt phosphorylation.
A common theme in neurodegeneration is that for any given disease-causing mutant protein, a large number of interwoven cellular dysfunctions have been discovered.
These observations further support the need for empirical testing of each Fabry disease-causing mutant form of α-Gal A to identify those that are responsive to AT1001.
To explore the ERAD pathway, we studied V247M α-sarcoglycan, the second most frequently reported disease-causing mutant (Leiden Muscular Dystrophy pages at www.dmd.nl).nl
We generated transgenic Drosophila stocks expressing versions of the Drosophila A-type lamin that were homologous to the patient Lamin A/C variants and the known disease-causing mutant under control of the Gal4/UAS system (43).
An intriguing question, which we found little empirical evidence for or against, could be addressed in the fly by constructing a series of sensitized backgrounds utilizing different disease-causing mutant hINS alleles of varying effect on disease [ e.g., neonatal diabetes vs. maturity-onset diabetes of the young (Støy et al. 2007)] and comparing the composition of naturally occurring modifiers.
