Rewiring enervated: Thinking LARGEr than myodystrophy

Eleni N. Levedakou, Brian Popko*

*Corresponding author for this work

Research output: Contribution to journalShort survey

4 Scopus citations

Abstract

LARGE is a glycosyltransferase known to glycosylate α-dystroglycan, a component of the dystrophin-associated glycoprotein complex. Spontaneous deletions in the Large gene (Largemyd and Largevls) result in muscular dystrophy accompanied by heart, brain, and eye defects. Another Large mouse mutant, enervated (Largeenr), is the result of a transgene integration event that disrupts Large gene expression. In addition to myodystrophy, enr mice have been shown to display peripheral nerve abnormalities, including altered axonal sorting resulting from Schwann cell defects, poor regeneration after nerve injury, and abnormal neuromuscular junctions. These data have provided new insight into our understanding of the function of LARGE and have suggested the possibility of involvement of substrates in addition to α-dystroglycan in the generation of the LARGE phenotype. The Large mutants are excellent models for addressing the importance of glycosylation in neuromuscular disease.

Original languageEnglish (US)
Pages (from-to)237-243
Number of pages7
JournalJournal of Neuroscience Research
Volume84
Issue number2
DOIs
Publication statusPublished - Aug 1 2006

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Keywords

  • Glycosylation
  • Glycosyltransferase
  • Neuromuscular junction
  • Peripheral nerve
  • Schwann cells

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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