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Article

SPEG binds with desmin and its deficiency causes defects in triad and focal adhesion proteins.

Human molecular genetics - 25 Feb 2021

Luo Shiyu, Li Qifei, Lin Jasmine, Murphy Quinn, Marty Isabelle, Zhang Yuanfan, Kazerounian Shideh, Agrawal Pankaj B

Abstract excerpt

Striated preferentially expressed gene (SPEG), a member of the myosin light chain kinase family, is localized at the level of triad surrounding myofibrils in skeletal muscles. In humans, SPEG mutations are associated with centronuclear myopathy and cardiomyopathy. Using a striated muscle-specific Speg-knockout (KO) mouse model, we have previously shown that SPEG is critical for triad maintenance and calcium...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33355670
DOI: 10.1093/hmg/ddaa276
PMCID: PMC8485222

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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