Article
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Neurogenetics - 1 Mar 2021
Lornage Xavière, Mallaret Martial, Silva-Rojas Roberto, Biancalana Valérie, Giovannini Diane, Dieterich Klaus, Saker Safaa, Deleuze Jean-François, Wuyam Bernard, Laporte Jocelyn, Böhm Johann
Abstract excerpt
The nuclear envelope (NE) separates the nucleus from the cytoplasm in all eukaryotic cells. A disruption of the NE structure compromises normal gene regulation and leads to severe human disorders collectively classified as nuclear envelopathies and affecting skeletal muscle, heart, brain, skin, and bones. The ubiquitous NE component LAP1B is encoded by TOR1AIP1, and the use of an alternative start codon gives...
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