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We investigated function and localization of G213R rClC-7 to decide whether mislocalization or impaired functionality of G215R ClC-7 is responsible for ADO II.
It is suggested that the scenario found in the CHO model system also applies to the human transporter and that mislocalization rather than impaired functionality of G215R ClC-7 is the primary cause of the related autosomal dominant osteopetrosis type II.
Our study conducted in newly diagnosed stage I and stage II breast cancer patients [ 9] showed impaired functionality of T cells and dendritic cells, which correlated with COX-2 overexpression in the tumors and increased levels of PGE2 in the serum and tumor milieu.
However, in all mutant embryos, we observed periventricular lesions in the brain, consistent with impaired functionality of this organ.
Defective neural development likely accounts for the impaired functionality of the brain that is observed in OCRL1 mutants, namely increased susceptibility to heat-induced seizures, which is evident already at 6 dpf.
The second new finding shows that the impaired functionality of ACE2-angiotensin(1 7)- Mas axis increases carotid resistance, which reduces carotid blood flow during type I-diabetes, highlighting the importance of the vasoprotective role assigned to the activation of this axis in both healthy and diseased conditions.
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Nef disrupts calnexin interaction with ABCA1, thus impairing functionality of this protein, but increases affinity and enhances interaction of calnexin with gp160, promoting maturation and functionality of viral Env proteins.
Deletion of the "linker" motif (NFNY; encoded by plasmid PNLS276 III) or extension of the "linker" by introduction of two additional glycine residues (encoded by plasmid PNLS276 IV) did not impair functionality of nuclear targeting.
The mean baseline clinical global impression of severity score of 4.4 indicated moderately severe illness, and other baseline averages indicated clinically significant pain, fatigue, sleep impairment and impaired functionality.
Furthermore, impaired functionality and a reduced number of memory phenotype CD8 T cells were observed after long-term BDE-209 exposure.
In fact, the muscular proteins are prone to glycation, with resultant impaired functionality, which likely explains the pathophysiology of DM related diaphragm weakness [ 183].
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