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Article

TOR1AIP1-Associated Nuclear Envelopathies.

International journal of molecular sciences - 7 Apr 2023

Mackels Laurane, Liu Xincheng, Bonne Gisèle, Servais Laurent

Abstract excerpt

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...

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Identifiers

PMID: 37108075
DOI: 10.3390/ijms24086911
PMCID: PMC10138496

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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