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ISPD produces CDP-r...
ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan
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Gerin, I. (author)
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Ury, B. (author)
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Breloy, I. (author)
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Bouchet-Seraphin, C. (author)
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Bolsee, J. (author)
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Halbout, M. (author)
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Graff, J. (author)
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Vertommen, D. (author)
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Muccioli, G. G. (author)
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Seta, N. (author)
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Cuisset, J. M. (author)
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Dabaj, I. (author)
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Quijano-Roy, S. (author)
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- Grahn, Ammi, 1961 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Van Schaftingen, E. (author)
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Bommer, G. T. (author)
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(creator_code:org_t)
- 2016-05-19
- 2016
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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https://www.nature.c...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
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- Mutations in genes required for the glycosylation of alpha-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise structure and biogenesis of the assembled glycan are not completely understood. Here we report that three enzymes mutated in dystroglycanopathies can collaborate to attach ribitol phosphate onto a-dystroglycan. Specifically, we demonstrate that isoprenoid synthase domain-containing protein (ISPD) synthesizes CDP-ribitol, present in muscle, and that both recombinant fukutin (FKTN) and fukutin-related protein (FKRP) can transfer a ribitol phosphate group from CDP-ribitol to alpha-dystroglycan. We also show that ISPD and FKTN are essential for the incorporation of ribitol into alpha-dystroglycan in HEK293 cells. Glycosylation of alpha-dystroglycan in fibroblasts from patients with hypomorphic ISPD mutations is reduced. We observe that in some cases glycosylation can be partially restored by addition of ribitol to the culture medium, suggesting that dietary supplementation with ribitol should be evaluated as a therapy for patients with ISPD mutations.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- congenital muscular-dystrophy
- walker-warburg syndrome
- gram-positive
- bacteria
- fukutin-related protein
- o-mannosylation
- haemophilus-influenzae
- mammalian-cells
- posttranslational modification
- streptococcus-pneumoniae
- extracellular-matrix
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Gerin, I.
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Ury, B.
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Breloy, I.
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Bouchet-Seraphin ...
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Bolsee, J.
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Halbout, M.
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show more...
-
Graff, J.
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Vertommen, D.
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Muccioli, G. G.
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Seta, N.
-
Cuisset, J. M.
-
Dabaj, I.
-
Quijano-Roy, S.
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Grahn, Ammi, 196 ...
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Van Schaftingen, ...
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Bommer, G. T.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
- Articles in the publication
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Nature Communica ...
- By the university
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University of Gothenburg