In this study, we generated LMNA-mutated and WRN-deficient human ESC lines with the same genetic background, making it possible to compare and contrast the cellular consequences of the genetic defects underlying HGPS and WS side-by-side.
Myocardial copper deficiency and defective cellular copper transport/trafficking are revealed as key molecular defects underlying LV impairment in diabetes, and TETA-mediated restoration of copper regulation provides a potential new class of therapeutic molecules for DCM.
The molecular defects underlying AS are heterogeneous.
The molecular defects underlying the mutant phenotype was further investigated using mRNA in situ hybridization (ISH).
The scientists are now screening infertile women to see whether Juno defects underlie their condition.
Thus, LmnaDhe may be a useful model for teasing apart mechanisms underlying the many cellular defects of HGPS and other non-muscle affected laminopathies.
Surprisingly, a large majority of genes affected in knockout were unaffected in overexpression and vice versa, supporting different mechanisms underlying behavioral and cellular defects of these two genetic models.
However, these studies were qualitative and did not address the cellular mechanisms underlying defects.
In these diseases, the underlying cellular defect is in the generation, organization or function of a specialized organelle, called the primary cilium.
To gain a better understanding of the responsible underlying mechanisms of these seemingly cilia-independent cellular defects, we studied the effects of BBS protein depletion on the cellular cytoskeleton.
