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Pregled bibliografske jedinice broj: 669696

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Roscioli, T.; Kamsteeg, E.J.; Buysse, K.; Maystadt, I.; van Reeuwijk, J.; van den Elzen, C.; van Beusekom, E.; Riemersma, M.; Pfundt, R.; Vissers, L.E. et al.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan // Nature genetics, 44 (2012), 5; 581-585 doi:10.1038/ng.2253 (međunarodna recenzija, članak, znanstveni)

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Naslov
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Autori
Roscioli, T. ; Kamsteeg, E.J. ; Buysse, K. ; Maystadt, I. ; van Reeuwijk, J. ; van den Elzen, C. ; van Beusekom, E. ; Riemersma, M. ; Pfundt, R. ; Vissers, L.E. ; Schraders, M. ; Altunoglu, U. ; Buckley, M.F. ; Brunner, H.G. ; Grisart, B. ; Zhou, H. ; Veltman, J.A. ; Gilissen, C. ; Mancini, G.M. ; Delrée, P. ; Willemsen, M.A. ; Petković-Ramadža, Danijela ; ... ; van Bokhoven, Habs

Izvornik
Nature genetics (1061-4036) 44 (2012), 5; 581-585

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Walker-Warburg syndrome; O-glycosylation; ISPD gene

Sažetak
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
108-1081870-1885 - Nasljedne metaboličke i ostale monogenske bolesti djece (Barić, Ivo, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

Avatar Url Danijela Petković-Ramadža (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

Roscioli, T.; Kamsteeg, E.J.; Buysse, K.; Maystadt, I.; van Reeuwijk, J.; van den Elzen, C.; van Beusekom, E.; Riemersma, M.; Pfundt, R.; Vissers, L.E. et al.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan // Nature genetics, 44 (2012), 5; 581-585 doi:10.1038/ng.2253 (međunarodna recenzija, članak, znanstveni)
Roscioli, T., Kamsteeg, E., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R. & Vissers, L. (2012) Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nature genetics, 44 (5), 581-585 doi:10.1038/ng.2253.
@article{article, author = {Roscioli, T. and Kamsteeg, E.J. and Buysse, K. and Maystadt, I. and van Reeuwijk, J. and van den Elzen, C. and van Beusekom, E. and Riemersma, M. and Pfundt, R. and Vissers, L.E. and Schraders, M. and Altunoglu, U. and Buckley, M.F. and Brunner, H.G. and Grisart, B. and Zhou, H. and Veltman, J.A. and Gilissen, C. and Mancini, G.M. and Delr\'{e}e, P. and Willemsen, M.A. and Petkovi\'{c}-Ramad\v{z}a, Danijela and van Bokhoven, Habs}, year = {2012}, pages = {581-585}, DOI = {10.1038/ng.2253}, keywords = {Walker-Warburg syndrome, O-glycosylation, ISPD gene}, journal = {Nature genetics}, doi = {10.1038/ng.2253}, volume = {44}, number = {5}, issn = {1061-4036}, title = {Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan}, keyword = {Walker-Warburg syndrome, O-glycosylation, ISPD gene} }
@article{article, author = {Roscioli, T. and Kamsteeg, E.J. and Buysse, K. and Maystadt, I. and van Reeuwijk, J. and van den Elzen, C. and van Beusekom, E. and Riemersma, M. and Pfundt, R. and Vissers, L.E. and Schraders, M. and Altunoglu, U. and Buckley, M.F. and Brunner, H.G. and Grisart, B. and Zhou, H. and Veltman, J.A. and Gilissen, C. and Mancini, G.M. and Delr\'{e}e, P. and Willemsen, M.A. and Petkovi\'{c}-Ramad\v{z}a, Danijela and van Bokhoven, Habs}, year = {2012}, pages = {581-585}, DOI = {10.1038/ng.2253}, keywords = {Walker-Warburg syndrome, O-glycosylation, ISPD gene}, journal = {Nature genetics}, doi = {10.1038/ng.2253}, volume = {44}, number = {5}, issn = {1061-4036}, title = {Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan}, keyword = {Walker-Warburg syndrome, O-glycosylation, ISPD gene} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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