Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy-Reference-Cited by-同舟云学术

Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy

Published:2021-01-06 Issue:1 Volume:22 Page:33-41
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Lornage Xavière,Mallaret Martial^ORCID,Silva-Rojas Roberto^ORCID,Biancalana Valérie^ORCID,Giovannini Diane,Dieterich Klaus^ORCID,Saker Safaa,Deleuze Jean-François^ORCID,Wuyam Bernard^ORCID,Laporte Jocelyn,Böhm Johann^ORCID

Funder

AFM-Téléthon

ANR

FRM

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-020-00632-3.pdf

Reference30 articles.

1. Hetzer MW (2010) The nuclear envelope. Cold Spring Harb Perspect Biol 2(3):a000539. https://doi.org/10.1101/cshperspect.a000539

2. Burke B, Stewart CL (2013) The nuclear lamins: flexibility in function. Nat Rev Mol Cell Biol 14(1):13–24. https://doi.org/10.1038/nrm3488

3. Bonne G, Quijano-Roy S (2013) Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. Handb Clin Neurol 113:1367–1376. https://doi.org/10.1016/B978-0-444-59565-2.00007-1

4. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N (2003) Lamin a truncation in Hutchinson-Gilford progeria. Science 300(5628):2055. https://doi.org/10.1126/science.1084125

5. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423(6937):293–298. https://doi.org/10.1038/nature01629

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