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ATGL-deficient mice suffer from an overall defect in energy homeostasis, defective thermogenesis, and severe cardiomyopathy, the latter leading to premature death of the animals [1].
Taken together with the appearance of polyubiquitin aggregates, these data are consistent with an overall defect in autophagic clearance of proteins and defective organelles.
Dyslexia represents a difficulty with reading, she says, not with thinking skills, one that "does not reflect an overall defect in language," but rather a weakness in a part of the language system.
The fact that SNAREs function not only in the secretory but also the endocytic pathway suggests that depletion of the SNARE function would result in an overall defect in intracellular membrane compartments.
Angelman syndrome (AS) is a neurological disorder that presents with an overall defect in synaptic function, including decreased long-term potentiation, reduced dendritic spine density, and deficits in learning and memory, making it an attractive model in which to examine the ability of Reelin to recover synaptic function and cognitive deficits.
Importantly, W211A and F215A mutations have been previously shown not to disturb the native biochemical properties of Gαi proteins (Thomas et al., 2004), and therefore, their inability to bind Daple is not a consequence of an overall defect in G protein folding or function.
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Interestingly, while the cap▵ mutant strains displayed an overall growth defect, they did not display increased sensitivity to copper-starvation (Figure 4A).
However, we are confident that the mutant KIF17 is not producing an overall entry defect because ciliary targeting of SSTR3 is unaffected by mutant KIF17.
Two mouse strains lacking p600 (p600−/−) were found to be embryonic lethal between E9.5 and E14.5 (depending on the strain, genetic background, and individual variation) with abnormal development of several embryonic tissues (including microcephalic brain) and extra-embryonic organs (yolk sac, placenta) and an overall growth defect (Nakaya et al., 2013; Tasaki et al., 2013).
Although this might account for their poor performance in this test, the overall defect in muscular strength is more profound and involved more than an inability to grip.
For hydrogels that contained BMP-2, similar volumes of new bone tissue were formed; however, the faster degrading hydrogel exhibited improved cellular invasion, bone volume to total volume ratio, and overall defect filling.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com