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Rather, Sp2-deficiency causes a general cellular defect that precludes normal progression of development resulting in early embryonic lethality.
Another cellular defect that has been observed in mouse MCM hypomorphs is an overall decrease in cellular proliferation, possibly associated with a depletion of stem cell populations [45,62].
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The zebrafish is a compelling vertebrate model for understanding cellular processes in the context of the developing embryo and for analysis of cellular defects that lead to diseases such as cancer.
However, the expansion procedure is known to exhaust the stem cell pool causing cellular defects that promote apoptosis and disrupt homing to the bone marrow.
Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood.
In addition to that, R103W protein is prone to aggregate in vivo due to reduced stability, whereas P486S showed enhanced interaction with J-proteins, thus remarkably recapitulating the cellular defects that are observed in human PD variants.
Although the genetic component involvement is clear, the precise molecular and cellular defects that precedes illness onset and the sequence of mechanisms that initiate or attenuate disease progression, particularly in neurons, are still unknown.
To better understand the cellular defects that occurred during pollen development in the MT, a comparative proteomic approach was conducted, and 62 differentially expressed protein spots were identified between the PGMS MT and WT anthers at three developmental stages.
To gain detailed insights into the cellular defects that occurred during PGMS pollen development, we used a differential proteomic approach to investigate the protein profiles of mutant and wild-type anthers at the tetrad, uninucleate and binucleate pollen stages.
Many notable insights have been made through these methods, but the molecular and cellular defects that contribute to disease initiation and progression in neurons have been difficult to elucidate.
Altered lipid distribution among cell membranes could lead to their accumulation in lysosomes, impairing the normal function of these organelles and thereby triggering pleiotropic cellular defects that might collectively contribute to Batten disease.
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