Exact(2)
Mechanistically, these phenotypes could be caused by defective traffic of Wnt receptors such as Fzd or Lrp6.
F508del-CFTR is associated with defective traffic (Class II) which precludes it from reaching the cell surface [reviewed in (Amaral, 2004)].
Similar(58)
Mislocalization of glutamate receptors could be a result of defective trafficking of these receptors.
Fixed cells were used to score for defective trafficking based on the perinuclear clustering of mitochondria, or were subjected to immunocytochemistry as described below.
To assess a possible role for the CD11b+ cells in the clearance of apoptotic cells, we analyzed mice deficient for eosinophils and mice with defective trafficking of neutrophils.
Applied to ADO II this suggests that G213R related ADO II is predominantly caused by defective trafficking, while the impaired transporter activity of the mutant ClC-7 plays only a marginal role.
Based on our current and previous [25] findings, we surmise that the defective trafficking, along with fragmentation of the Golgi complex [48] and increased apoptosis [49], [50], may be the underlying basis how the E50K optineurin mutation renders the patients predisposed to the glaucoma pathology.
This data unequivocally indicates that a dramatic increase in kinetic parameters of mutant ACE (ZPHL/HHL ratio) was due to selective denaturation of the C-domain of mutant ACE, perhaps due to incorrect chaperoning and more defective trafficking to the cell surface.
Defective trafficking of the latter may be case in mice with Tg737orpk mutation where polycystin-2 is seen accumulated in the stunted cilium, since Tg737/Polaris is not required for moving polycystin-2 into cilia but is needed to recycle it to the cell body[52].
Or is something more subtle at play (defective trafficking?)?
Both P88S and P88Q lead to defective trafficking and, as expected, functional homotypic gap junction channel is not formed.
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