A molecular overview of the primary dystroglycanopathies

Andrea Brancaccio*

*Corresponding author for this work

Research output: Contribution to journalReview article (Academic Journal)peer-review

6 Citations (Scopus)
207 Downloads (Pure)

Abstract

Dystroglycan is a major non‐integrin adhesion complex that connects the cytoskeleton to the surrounding basement membranes, thus providing stability to skeletal muscle. In Vertebrates, hypoglycosylation of α‐dystroglycan has been strongly linked to muscular dystrophy phenotypes, some of which also show variable degrees of cognitive impairments, collectively termed dystroglycanopathies. Only a small number of mutations in the dystroglycan gene, leading to the so called primary dystroglycanopathies, has been described so far, as opposed to the ever‐growing number of identified secondary or tertiary dystroglycanopathies (caused by genetic abnormalities in glycosyltransferases or in enzymes involved in the synthesis of the carbohydrate building blocks). The few mutations found within the autonomous N‐terminal domain of α‐dystroglycan seem to destabilise it to different degrees, without influencing the overall folding and targeting of the dystroglycan complex. On the contrary other mutations, some located at the α/β interface of the dystroglycan complex, seem to be able to interfere with its maturation, thus compromising its stability and eventually leading to the intracellular engulfment and/or partial or even total degradation of the dystroglycan uncleaved precursor.
Original languageEnglish
Pages (from-to)3058-3062
Number of pages5
JournalJournal of Cellular and Molecular Medicine
Volume23
Issue number5
Early online date5 Mar 2019
DOIs
Publication statusPublished - 1 May 2019

Bibliographical note

© 2019 The Author. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine.

Keywords

  • Dystroglycan
  • Dystroglycanopathies
  • missense mutations
  • molecular analysis
  • protein domains

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