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Of note here is that RBS fibroblasts were less sensitive to MMC than fibroblasts from a PALB2 deficient Fanconi anemia patient, which has a more general defect in crosslink repair and shows a disturbance in the formation of Rad51 foci [26].
DOI: http://dx.doi.org/10.7554/eLife.07918.011 The failure to silence telomerase could be specific to the fibroblast differentiation paradigm or a more general defect during differentiation.
Impaired recognition of familiar voices often accompanies the development of prosopagnosia as evidence of a more general defect of person knowledge in semantic dementia (Gainotti et al., 2003).
We were surprised that HAP1 cells lacking SPCS1 or SPCS2 did not have a more general defect in cell surface protein expression; out of seven cell surface proteins tested, only ULBP1 expression was decreased.
Because pun1 ∆ mutant cells exhibited increased sensitivity to several metal ions and not only to those causing transcriptional induction of PUN1, these data rather suggest a more general defect in maintaining ion homeostasis and not a specific transport defect.
Aberrant migration of phospho-Erk1 was observed in one cell line (CoCM-1), but this was not investigated further, since many proteins in this cell line display an unexpected size (data not shown), arguing for a more general defect in the protein expression or processing machinery, which is independent of Erk1.
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We speculate that mutations on β6 may produce more general defects in eIF4E folding or structural integrity.
To explore the molecular basis of hypomyelination, we determined whether loss of Fig4 in Schwann cells and the enlargement of LE/LY results in impaired exocytosis of myelin proteins, impaired myelin protein degradation or more general defects in the endomembrane system during active myelination.
This result hints to a further defect in spore wall synthesis control, or to a more general energetic defect in these cells, that fail to react to environmental cues in the prescribed optimal manner.
Gautier et al (2008) proposed that altered mitochondrial dynamics could cause a more general respiration defect, however no evidence was provided.
To determine whether this might reflect a more general migratory defect, we performed scratch wound assays and analysed migration into the 'wound' zone using live imaging.
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