TOR1AIP1-Associated Nuclear Envelopathies.

LAP1; LAP1B; LAP1C; TOR1AIP1; clinical spectrum; inner nuclear membrane; lamina-associated polypeptide 1B; lamina-associated polypeptide 1C; lamina-associated protein 1; mutations; Membrane Proteins; Nuclear Proteins; TOR1AIP1 protein, human; Cytoskeletal Proteins; Humans; Mutation; Nuclear Envelope/metabolism; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; Membrane Proteins/metabolism; Muscular Dystrophies/metabolism; Cytoskeletal Proteins/metabolism; Muscular Dystrophies; Nuclear Envelope; Catalysis; Molecular Biology; Spectroscopy; Computer Science Applications; Physical and Theoretical Chemistry; Organic Chemistry; Inorganic Chemistry

Abstract :

[en] 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.

Disciplines :

Pediatrics

Author, co-author :

Mackels, Laurane ; Centre Hospitalier Universitaire de Liège - CHU > > Service de neurologie ; MDUK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK ; Adult Neurology Department, Citadelle Hospital, 4000 Liège, Belgium

Liu, Xincheng; MDUK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, Oxford OX3 9DU, UK

Bonne, Gisèle ; Sorbonne University, INSERM, Institut de Myologie, Centre de Recherche en Myologie, 75013 Paris, France

Servais, Laurent ; Université de Liège - ULiège > Département des sciences cliniques ; MDUK Oxford Neuromuscular Center, Department of Paediatrics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 9DU, UK

Language :

English

Title :

TOR1AIP1-Associated Nuclear Envelopathies.

Publication date :

07 April 2023

Journal title :

International Journal of Molecular Sciences

ISSN :

1661-6596

eISSN :

1422-0067

Publisher :

Multidisciplinary Digital Publishing Institute (MDPI), Switzerland

Volume :

Issue :

Pages :

6911

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://www.mdpi.com/1422-0067/24/8/6911/pdf

Available on ORBi :

since 09 December 2024

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