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Article

Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

PLoS genetics - 1 Sept 2014

Meinke Peter, Mattioli Elisabetta, Haque Farhana, Antoku Susumu, Columbaro Marta, Straatman Kees R, Worman Howard J, Gundersen Gregg G, Lattanzi Giovanna, Wehnert Manfred, Shackleton Sue

Abstract excerpt

Proteins of the nuclear envelope (NE) are associated with a range of inherited disorders, most commonly involving muscular dystrophy and cardiomyopathy, as exemplified by Emery-Dreifuss muscular dystrophy (EDMD). EDMD is both genetically and phenotypically variable, and some evidence of modifier genes has been reported. Six genes have so far been linked to EDMD, four encoding proteins associated with the LINC...

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Topics

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Share to Cytoskeleton
Share to Intracellular Signaling Peptides and Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microtubule-Associated Proteins

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophies

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Source

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Identifiers

PMID: 25210889
DOI: 10.1371/journal.pgen.1004605
PMCID: PMC4161305

Genes

SUN1
SUN2

Provenance

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Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.PMID 25210889Read ↗

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