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Nuclear pore complexes (NPCs) are large protein assemblies that perforate the double membrane of the nuclear envelope (NE). They mediate all trafficking between the nucleus and the cytoplasm of interphase cells and are composed of a set of different proteins, known as nucleoporins. Nucleoporins frequently have additional functions in, for example, chromatin organisation, transcription and cell cycle progression, which are mainly independent of nuclear transport. Therefore, nucleoporins are key players in overall nuclear organisation and intact nuclear organisation is critical for normal cell function. Our aim is to understand the role of certain nucleoporins in human disease, acute leukaemia and a neuromuscular disorder known as fetal akinesia in particular .
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