Sentence examples for trafficking defects from inspiring English sources

Pharmacologic restoration of the trafficking defects of HERG missense mutations has been documented.

Mutations in CORVET or HOPS lead to trafficking defects and contribute to human disease, including immune dysfunction.

The trafficking defects associated with Parkinson's can be reversed by increasing retromer pathway activity, suggesting a possible therapeutic strategy.

Our findings establish telomerase mislocalization as a novel cause of DC, and suggest that telomerase trafficking defects may contribute more broadly to the pathogenesis of telomere-related disease.

These axon trafficking defects were not detected in very early time points (9 DIV) but became obvious from 21 DIV onwards (Fig. 4a c, Supplementary Movies 1 and 2).

Furthermore, we characterize the neurodegeneration observed in Munc18-1 mutands andemonstratethathathisis cell-autonomous process does not appear to be a result of defects in growth factor signaling or ER stress caused by protein trafficking defects.

A genome-wide genetic screen identified modifiers of LRRK2-induced toxicity in yeast including components of vesicular trafficking pathways, which can also modulate the trafficking defects caused by expression of truncated LRRK2 variants.

Protein modeling predicted that Ala300Thr alters the mobility profile of the Kv7.1 tetramer and Thr535 disrupts a calmodulin-binding site, probably causing co-assembly or trafficking defects of the mutant monomer.

Despite diminution of hCNT1 transport in the majority of ovarian cancers and apparent trafficking defects with CCC, the chemotherapeutic efficacy of gemcitabine was broadly enhanced in all subtypes when delivered via engineered nanoparticles (NPs).

Thus, Golgi-to-endosome trafficking defects perturb TORC1 transcriptional programs via multiple mechanisms.

Restoration of rpm-1 function in presynaptic neurons does not rescue the GLR-1 trafficking defects of rpm-1 mutants.