Associated Papers
TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.
Kafantari E et al.
Parkinsonism & Related Disorders, 2025
LAP1 Interactome Profiling Provides New Insights into LAP1's Physiological Functions.
Pereira CD et al.
International Journal of Molecular Sciences, 2024
Quantitative proteome analysis of LAP1-deficient human fibroblasts: A pilot approach for predicting the signaling pathways deregulated in LAP1-associated diseases.
Pereira CD et al.
Biochemistry and Biophysics Reports, 2024
TOR1AIP1-Associated Nuclear Envelopathies.
Mackels L et al.
International Journal of Molecular Sciences, 2023
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy.
Lornage X et al.
Neurogenetics, 2021
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
Fichtman B et al.
Nature Communications, 2019
Linker of nucleoskeleton and cytoskeleton complex proteins in cardiomyopathy.
Stroud MJ
Biophysical Reviews, 2018
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
Demircioglu FE et al.
Elife, 2016
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.
Ghaoui R et al.
Neuromuscular Disorders : Nmd, 2016
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.
Dorboz I et al.
Orphanet Journal of Rare Diseases, 2014
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