Associated Papers
The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.
Borah S et al.
Frontiers in Cell and Developmental Biology, 2022
Generation and characterization of iPSC lines from two nuclear envelopathy patients with a homozygous nonsense mutation in the TOR1AIP1 gene.
Ben-Haim Y et al.
Stem Cell Research, 2021
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X et al.
Neurogenetics, 2021
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Cossins J et al.
Brain Communications, 2020
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Fichtman B et al.
Nature Communications, 2019
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