Fukutin-Related Protein: From Pathology to Treatments

Carolina Ortiz-Cordero, Karim Azzag, Rita C.R. Perlingeiro

Research output: Contribution to journalReview articlepeer-review

Abstract

Fukutin-related protein (FKRP) is a glycosyltransferase involved in the functional glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton and the extracellular matrix (ECM). Mutations in FKRP lead to dystroglycanopathies with broad severity, including limb-girdle and congenital muscular dystrophy. Studies over the past 5 years have elucidated the function of FKRP, which has expanded the number of therapeutic opportunities for patients carrying FKRP mutations. These include small molecules, gene delivery, and cell therapy. Here we summarize recent findings on the function of FKRP and describe available models for studying diseases and testing therapeutics. Lastly, we highlight preclinical studies that hold potential for the treatment of FKRP-associated dystroglycanopathies.

Original languageEnglish (US)
Pages (from-to)197-210
Number of pages14
JournalTrends in Cell Biology
Volume31
Issue number3
DOIs
StatePublished - Mar 2021

Bibliographical note

Funding Information:
R.C.R.P. is supported by the National Institutes of Health grants R01 AR055299 and R01 AR071439 . C.O.C. was supported by PINN MICITT Costa Rica. We are thankful to Cynthia Faraday for graphical design.

Publisher Copyright:
© 2020 Elsevier Ltd

Keywords

  • congenital muscular dystrophy
  • dystroglycanopathy
  • glycosylation
  • limb-girdle
  • muscular dystrophy
  • α-dystroglycan

PubMed: MeSH publication types

  • Journal Article
  • Review

Fingerprint

Dive into the research topics of 'Fukutin-Related Protein: From Pathology to Treatments'. Together they form a unique fingerprint.

Cite this