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We found that the C184S mutant localized both to the Golgi and the PM and the C181S showed aberrant localization to the cytosol, the Golgi complex and the PM.
These optimized localization controllable protein constructs can be used to correct for diseases due to aberrant localization of proteins.
In the neuronal tissues of affected individuals TDP-43 undergoes aberrant localization to the cytoplasm to form insoluble aggregates.
Disruption of the DAG complex results in decreased nNOSμ expression and aberrant localization.
In addition, collagens such as COL-19 continue to be secreted to the cuticle, although this collagen displays aberrant localization.
Concurrent with the actin cytoskeleton disorganization, aberrant localization of APC was observed during progression to the malignant MOSE-L phenotype.
Modified sterol profiles might also cause aberrant localization or function of important membrane-bound proteins such as receptors or transport proteins.
Furthermore, immunohistochemical experiments showed aberrant localization of LDLR in H4-APP neuroglioma cells, Aβ-treated primary neurons, and in the PSAPP transgenic mouse model of AD.
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In accordance with this data, exon 17 c-KIT mutations do not appear to be responsible for aberrant KIT localization in canine MCTs with aberrant KIT localization that lack ITD c-KIT mutations.
Despite this correlation between ITD mutations and aberrant KIT localization, we have identified some MCTs that have aberrant KIT localization, but do not have ITD c-KIT mutations [ 36].
Additionally, in order to determine if mutations in exon 17 of c-KIT, where the majority of mutations occur in human mastocytosis patients, were responsible for aberrant KIT localization, exon 17 was screened in 18 MCTs with aberrant KIT localization that lack ITD c-KIT mutations.
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