TOR1AIP1-Associated Nuclear Envelopathies

Abstract

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.

Investigating Torsin‐1A‐interacting protein 1 as a predictive and immunological biomarker in cancer

“…Moreover, recent discoveries have provided initial indications suggesting that TOR1AIP1 might also play a role in cancer [18,19]. Given this and the limited research on TOR1AIP1 involvement in cancer, we decided to delve deeper into its potential role in cancer by utilizing bioinformatics tools [18][19][20]. The aim of this article was to conduct a comprehensive analysis of multiple databases to examine the expression of TOR1AIP1 across various cancer types and stages.…”