Manfred Wehnert

TL;DR: The cloning of a gene (LIS-1, lissencephaly-1) in 17p13.3 that is deleted in Miller–Dieker patients is reported, identifying LIS-l as the disease gene and the deduced amino-acid sequence shows significant homology to β-subunits of heterotrimeric G proteins, suggesting that it could possibly be involved in a signal transduction pathway crucial for cerebral development.

TL;DR: Data suggest that EDMD may be caused, in part, by uncoupling of the nucleoskeleton and cytoskeleton because of perturbed nesprin/emerin/lamin interactions.

TL;DR: A marked inter‐ and intra‐familial variability in the clinical expression of LMNA mutations exists, ranging from patients expressing the full clinical picture of EDMD to those characterized only by cardiac involvement, which points toward a significant role of possible modifier genes in the course of this disease.

TL;DR: In this article, structural associations between lamin and emerin were investigated in four human cell lines displaying abnormal expression and/or localisation of lamins A and C. In each cell line absence of lamin A and c from the nuclear envelope (NE) was correlated with mis-localisation of endogenous and exogenous emerin to the ER.

TL;DR: It is found that the lamin A precursor was specifically accumulated in lipodystrophy cells, and this defect can be rescued by treatment with troglitazone, a known PPARgamma ligand activating the adipogenic program.