TOR1AIP1-Associated Nuclear Envelopathies - Génétique et physiopathologie des MNM liées à la matrice extracellulaire et du noyau
Article Dans Une Revue International Journal of Molecular Sciences Année : 2023

TOR1AIP1-Associated Nuclear Envelopathies

Laurane Mackels
Xincheng Liu
  • Fonction : Auteur
Laurent Servais

Résumé

Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various biological processes and human diseases. The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease with or without progeroid features. Although rare, these recessively inherited disorders often lead to early death or considerable functional impairment. Developing a better understanding of the roles of LAP1 and mutant TOR1AIP1-associated phenotypes is paramount to allow therapeutic development. To facilitate further studies, this review provides an overview of the known interactions of LAP1 and summarizes the evidence for the function of this protein in human health. We then review the mutations in the TOR1AIP1 gene and the clinical and pathological characteristics of subjects with these mutations. Lastly, we discuss challenges to be addressed in the future.

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Dates et versions

hal-04066690 , version 1 (12-04-2023)

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Laurane Mackels, Xincheng Liu, Gisèle Bonne, Laurent Servais. TOR1AIP1-Associated Nuclear Envelopathies. International Journal of Molecular Sciences, 2023, 24, ⟨10.3390/ijms24086911⟩. ⟨hal-04066690⟩
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