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Zhou, V. CRPPA Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5289 (accessed on 21 September 2026).
Zhou V. CRPPA Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5289. Accessed September 21, 2026.
Zhou, Vicky. "CRPPA Gene" Encyclopedia, https://encyclopedia.pub/entry/5289 (accessed September 21, 2026).
Zhou, V. (2020, December 24). CRPPA Gene. In Encyclopedia. https://encyclopedia.pub/entry/5289
Zhou, Vicky. "CRPPA Gene." Encyclopedia. Web. 24 December, 2020.
CRPPA Gene
Edit

CDP-L-ribitol pyrophosphorylase A

genes

References

  1. Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L,Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, NürnbergP; UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA,Campbell KP, Voit T, Muntoni F. ISPD gene mutations are a common cause ofcongenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt1):269-81. doi: 10.1093/brain/aws312.
  2. Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J,Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A,Van Schaftingen E, Bommer GT. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.
  3. Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-ManyaK, Furukawa JI, Mizuno M, Kawakami H, Shinohara Y, Wada Y, Endo T, Toda T.Identification of a Post-translational Modification with Ribitol-Phosphate andIts Defect in Muscular Dystrophy. Cell Rep. 2016 Mar 8;14(9):2209-2223. doi:10.1016/j.celrep.2016.02.017.
  4. Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den ElzenC, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U,Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM,Delrée P, Willemsen MA, Ramadža DP, Chitayat D, Bennett C, Sheridan E, PeetersEA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-HashashOA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H. Mutations in ISPD causeWalker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet.2012 May;44(5):581-5. doi: 10.1038/ng.2253.
  5. Tasca G, Moro F, Aiello C, Cassandrini D, Fiorillo C, Bertini E, Bruno C,Santorelli FM, Ricci E. Limb-girdle muscular dystrophy with α-dystroglycandeficiency and mutations in the ISPD gene. Neurology. 2013 Mar 5;80(10):963-5.doi: 10.1212/WNL.0b013e3182840cbc.
  6. Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, CirakS, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL,Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. ISPD loss-of-functionmutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252.
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