Fukutin-Related Protein: From Pathology to Treatments

Carolina Ortiz Cordero; Karim Azzag; Rita C.R. Perlingeiro

doi:10.1016/j.tcb.2020.11.003

Fukutin-Related Protein: From Pathology to Treatments

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

Research output: Contribution to journal › Review article › peer-review

13 Scopus citations

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 language	English (US)
Pages (from-to)	197-210
Number of pages	14
Journal	Trends in Cell Biology
Volume	31
Issue number	3
DOIs	https://doi.org/10.1016/j.tcb.2020.11.003
State	Published - Dec 1 2020

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

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10.1016/j.tcb.2020.11.003

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title = "Fukutin-Related Protein: From Pathology to Treatments",

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.",

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author = "{Ortiz Cordero}, Carolina and Karim Azzag and Perlingeiro, {Rita C.R.}",

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: {\textcopyright} 2020 Elsevier Ltd",

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AU - Ortiz Cordero, Carolina

AU - Azzag, Karim

AU - Perlingeiro, Rita C.R.

N1 - 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

PY - 2020/12/1

Y1 - 2020/12/1

N2 - 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.

AB - 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.

KW - congenital muscular dystrophy

KW - dystroglycanopathy

KW - glycosylation

KW - limb-girdle

KW - muscular dystrophy

KW - α-dystroglycan

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Fukutin-Related Protein: From Pathology to Treatments

Abstract

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Keywords

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