Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphology including large nuclear-spanning channels in p...

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Autores principales: Boris Fichtman, Fadia Zagairy, Nitzan Biran, Yiftah Barsheshet, Elena Chervinsky, Ziva Ben Neriah, Avraham Shaag, Michael Assa, Orly Elpeleg, Amnon Harel, Ronen Spiegel
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2019
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Acceso en línea:https://doaj.org/article/7b3e738eaaa1487c9dd54b6c727f0181
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Sumario:Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphology including large nuclear-spanning channels in patients’ fibroblasts.