Figure 4.

Nuclear envelope components implicated in human diseases. Mutations in nuclear envelope components have been associated with several human diseases, collectively referred as “envelopathies”. Mutated components can be part of the nuclear lamina [LAP-2α (lamin-associated protein 2a—dark grey) and A- and B-type lamins (black and grey lines)], the inner nuclear membrane [MAN1 (blue), emerin (purple) and LBR (lamin B receptor—dark purple)] or the outer nuclear membrane [Nesprin-1 and -2 (green) and ZMPSTE24 (dark green)]. The details of each of these diseases are provided in Tables 1, 2 and 3.