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Article

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.

Skeletal muscle - 2 Aug 2018

Hiramuki Yosuke, Tapscott Stephen J

Abstract excerpt

BACKGROUND: SMCHD1 is a disease modifier and a causative gene for facioscapulohumeral muscular dystrophy (FSHD) type 1 and type 2, respectively. A large variety of different mutations in SMCHD1 have been identified as causing FSHD2. In many cases, it is unclear how these mutations disrupt the normal function of SMCHD1. METHODS: We made and analyzed lenti-viral vectors that express Flag-tagged full-length or...

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Topics

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Share to Active Transport, Cell Nucleus
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Open in PubMed Open full text

Identifiers

PMID: 30071896
DOI: 10.1186/s13395-018-0172-z
PMCID: PMC6090946

Genes

SMCHD1
DUX4

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.

Related research

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Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage.PMID 30071896Read ↗

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SMCHD1 loss re-wires MYOD1 enhancer nexuses and chromatin accessibility landscapes in muscle cellsSemantic proximity Read ↗

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