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FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

Standard

FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. / Wood, A J; Lin, C H; Li, M; Nishtala, K; Alaei, S; Rossello, F; Sonntag, C; Hersey, L; Miles, L B; Krisp, C; Dudczig, S; Fulcher, A J; Gibertini, S; Conroy, P J; Siegel, A; Mora, M; Jusuf, P; Packer, N H; Currie, P D.

in: NAT COMMUN, Jahrgang 12, Nr. 1, 2951, 19.05.2021.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Wood, AJ, Lin, CH, Li, M, Nishtala, K, Alaei, S, Rossello, F, Sonntag, C, Hersey, L, Miles, LB, Krisp, C, Dudczig, S, Fulcher, AJ, Gibertini, S, Conroy, PJ, Siegel, A, Mora, M, Jusuf, P, Packer, NH & Currie, PD 2021, 'FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy', NAT COMMUN, Jg. 12, Nr. 1, 2951. https://doi.org/10.1038/s41467-021-23217-6

APA

Wood, A. J., Lin, C. H., Li, M., Nishtala, K., Alaei, S., Rossello, F., Sonntag, C., Hersey, L., Miles, L. B., Krisp, C., Dudczig, S., Fulcher, A. J., Gibertini, S., Conroy, P. J., Siegel, A., Mora, M., Jusuf, P., Packer, N. H., & Currie, P. D. (2021). FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. NAT COMMUN, 12(1), [2951]. https://doi.org/10.1038/s41467-021-23217-6

Vancouver

Wood AJ, Lin CH, Li M, Nishtala K, Alaei S, Rossello F et al. FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. NAT COMMUN. 2021 Mai 19;12(1). 2951. https://doi.org/10.1038/s41467-021-23217-6

Bibtex

@article{8de70acd9dcc400d8727ef30cfb71b74,
title = "FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy",
abstract = "The muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene. This is surprising as FKRP is a glycosyltransferase, whose only identified function is to transfer ribitol-5-phosphate to α-dystroglycan (α-DG). Although this modification is critical for extracellular matrix attachment, α-DG's glycosylation status relates poorly to disease severity, suggesting the existence of unidentified FKRP targets. Here we reveal that FKRP directs sialylation of fibronectin, a process essential for collagen recruitment to the muscle basement membrane. Thus, our results reveal that FKRP simultaneously regulates the two major muscle-ECM linkages essential for fibre survival, and establishes a new disease axis for the muscular dystrophies.",
keywords = "Animals, Basement Membrane/metabolism, Cell Line, Disease Models, Animal, Fibronectins/metabolism, Gene Knockout Techniques, Glycosylation, Glycosyltransferases/deficiency, Humans, Male, Muscle, Skeletal/metabolism, Muscular Dystrophies/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Muscular Dystrophy, Animal/genetics, Mutation, Myoblasts, Skeletal/metabolism, Pentosyltransferases/deficiency, Phenotype, Zebrafish, Zebrafish Proteins/deficiency",
author = "Wood, {A J} and Lin, {C H} and M Li and K Nishtala and S Alaei and F Rossello and C Sonntag and L Hersey and Miles, {L B} and C Krisp and S Dudczig and Fulcher, {A J} and S Gibertini and Conroy, {P J} and A Siegel and M Mora and P Jusuf and Packer, {N H} and Currie, {P D}",
year = "2021",
month = may,
day = "19",
doi = "10.1038/s41467-021-23217-6",
language = "English",
volume = "12",
journal = "NAT COMMUN",
issn = "2041-1723",
publisher = "NATURE PUBLISHING GROUP",
number = "1",

}

RIS

TY - JOUR

T1 - FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy

AU - Wood, A J

AU - Lin, C H

AU - Li, M

AU - Nishtala, K

AU - Alaei, S

AU - Rossello, F

AU - Sonntag, C

AU - Hersey, L

AU - Miles, L B

AU - Krisp, C

AU - Dudczig, S

AU - Fulcher, A J

AU - Gibertini, S

AU - Conroy, P J

AU - Siegel, A

AU - Mora, M

AU - Jusuf, P

AU - Packer, N H

AU - Currie, P D

PY - 2021/5/19

Y1 - 2021/5/19

N2 - The muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene. This is surprising as FKRP is a glycosyltransferase, whose only identified function is to transfer ribitol-5-phosphate to α-dystroglycan (α-DG). Although this modification is critical for extracellular matrix attachment, α-DG's glycosylation status relates poorly to disease severity, suggesting the existence of unidentified FKRP targets. Here we reveal that FKRP directs sialylation of fibronectin, a process essential for collagen recruitment to the muscle basement membrane. Thus, our results reveal that FKRP simultaneously regulates the two major muscle-ECM linkages essential for fibre survival, and establishes a new disease axis for the muscular dystrophies.

AB - The muscular dystrophies encompass a broad range of pathologies with varied clinical outcomes. In the case of patients carrying defects in fukutin-related protein (FKRP), these diverse pathologies arise from mutations within the same gene. This is surprising as FKRP is a glycosyltransferase, whose only identified function is to transfer ribitol-5-phosphate to α-dystroglycan (α-DG). Although this modification is critical for extracellular matrix attachment, α-DG's glycosylation status relates poorly to disease severity, suggesting the existence of unidentified FKRP targets. Here we reveal that FKRP directs sialylation of fibronectin, a process essential for collagen recruitment to the muscle basement membrane. Thus, our results reveal that FKRP simultaneously regulates the two major muscle-ECM linkages essential for fibre survival, and establishes a new disease axis for the muscular dystrophies.

KW - Animals

KW - Basement Membrane/metabolism

KW - Cell Line

KW - Disease Models, Animal

KW - Fibronectins/metabolism

KW - Gene Knockout Techniques

KW - Glycosylation

KW - Glycosyltransferases/deficiency

KW - Humans

KW - Male

KW - Muscle, Skeletal/metabolism

KW - Muscular Dystrophies/genetics

KW - Muscular Dystrophies, Limb-Girdle/genetics

KW - Muscular Dystrophy, Animal/genetics

KW - Mutation

KW - Myoblasts, Skeletal/metabolism

KW - Pentosyltransferases/deficiency

KW - Phenotype

KW - Zebrafish

KW - Zebrafish Proteins/deficiency

U2 - 10.1038/s41467-021-23217-6

DO - 10.1038/s41467-021-23217-6

M3 - SCORING: Journal article

C2 - 34012031

VL - 12

JO - NAT COMMUN

JF - NAT COMMUN

SN - 2041-1723

IS - 1

M1 - 2951

ER -