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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

Bibliographic reference Gerin, Isabelle ; Ury, Benoît ; Breloy, Isabelle ; Bouchet-Seraphin, Céline ; Bolsée, Jennifer ; et. al. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. In: Nature Communications, Vol. 7, no. 1, p. 11534 [1-15] (2016)
Permanent URL http://hdl.handle.net/2078.1/175322
  1. Endo T., Glycobiology of  -dystroglycan and muscular dystrophy, 10.1093/jb/mvu066
  2. Michele Daniel E., Barresi Rita, Kanagawa Motoi, Saito Fumiaki, Cohn Ronald D., Satz Jakob S., Dollar James, Nishino Ichizo, Kelley Richard I., Somer Hannu, Straub Volker, Mathews Katherine D., Moore Steven A., Campbell Kevin P., Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies, 10.1038/nature00837
  3. Live David, Wells Lance, Boons Geert-Jan, Dissecting the Molecular Basis of the Role of the O-Mannosylation Pathway in Disease: α-Dystroglycan and Forms of Muscular Dystrophy, 10.1002/cbic.201300417
  4. Yoshida-Moriguchi T., Campbell K. P., Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane, 10.1093/glycob/cwv021
  5. Ibraghimov-Beskrovnaya Oxana, Ervasti James M., Leveille Cynthia J., Slaughter Clive A., Sernett Suzanne W., Campbell Kevin P., Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix, 10.1038/355696a0
  6. Stalnaker Stephanie H., Aoki Kazuhiro, Lim Jae-Min, Porterfield Mindy, Liu Mian, Satz Jakob S., Buskirk Sean, Xiong Yufang, Zhang Peng, Campbell Kevin P., Hu Huaiyu, Live David, Tiemeyer Michael, Wells Lance, Glycomic Analyses of Mouse Models of Congenital Muscular Dystrophy, 10.1074/jbc.m110.203281
  7. Gomez Toledo Alejandro, Raducu Madalina, Cruces Jesús, Nilsson Jonas, Halim Adnan, Larson Göran, Rüetschi Ulla, Grahn Ammi, O-Mannose and O–N-acetyl galactosamine glycosylation of mammalian α-dystroglycan is conserved in a region-specific manner, 10.1093/glycob/cws109
  8. Carss Keren J., Stevens Elizabeth, Foley A. Reghan, Cirak Sebahattin, Riemersma Moniek, Torelli Silvia, Hoischen Alexander, Willer Tobias, van Scherpenzeel Monique, Moore Steven A., Messina Sonia, Bertini Enrico, Bönnemann Carsten G., Abdenur Jose E., Grosmann Carla M., Kesari Akanchha, Punetha Jaya, Quinlivan Ros, Waddell Leigh B., Young Helen K., Wraige Elizabeth, Yau Shu, Brodd Lina, Feng Lucy, Sewry Caroline, MacArthur Daniel G., North Kathryn N., Hoffman Eric, Stemple Derek L., Hurles Matthew E., van Bokhoven Hans, Campbell Kevin P., Lefeber Dirk J., Lin Yung-Yao, Muntoni Francesco, Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan, 10.1016/j.ajhg.2013.05.009
  9. Ogawa Mitsutaka, Nakamura Naosuke, Nakayama Yoshiaki, Kurosaka Akira, Manya Hiroshi, Kanagawa Motoi, Endo Tamao, Furukawa Koichi, Okajima Tetsuya, GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody, 10.1016/j.bbrc.2013.09.022
  10. Manzini M. Chiara, Tambunan Dimira E., Hill R. Sean, Yu Tim W., Maynard Thomas M., Heinzen Erin L., Shianna Kevin V., Stevens Christine R., Partlow Jennifer N., Barry Brenda J., Rodriguez Jacqueline, Gupta Vandana A., Al-Qudah Abdel-Karim, Eyaid Wafaa M., Friedman Jan M., Salih Mustafa A., Clark Robin, Moroni Isabella, Mora Marina, Beggs Alan H., Gabriel Stacey B., Walsh Christopher A., Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome, 10.1016/j.ajhg.2012.07.009
  11. Yoshida-Moriguchi T., Willer T., Anderson M. E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S. F., Yu L., Campbell K. P., SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function, 10.1126/science.1239951
  12. Stevens Elizabeth, Carss Keren J., Cirak Sebahattin, Foley A. Reghan, Torelli Silvia, Willer Tobias, Tambunan Dimira E., Yau Shu, Brodd Lina, Sewry Caroline A., Feng Lucy, Haliloglu Goknur, Orhan Diclehan, Dobyns William B., Enns Gregory M., Manning Melanie, Krause Amanda, Salih Mustafa A., Walsh Christopher A., Hurles Matthew, Campbell Kevin P., Manzini M. Chiara, Stemple Derek, Lin Yung-Yao, Muntoni Francesco, Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan, 10.1016/j.ajhg.2013.01.016
  13. Goddeeris Matthew M., Wu Biming, Venzke David, Yoshida-Moriguchi Takako, Saito Fumiaki, Matsumura Kiichiro, Moore Steven A., Campbell Kevin P., LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy, 10.1038/nature12605
  14. Yoshida-Moriguchi T., Yu L., Stalnaker S. H., Davis S., Kunz S., Madson M., Oldstone M. B. A., Schachter H., Wells L., Campbell K. P., O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding, 10.1126/science.1180512
  15. Inamori K.-i., Yoshida-Moriguchi T., Hara Y., Anderson M. E., Yu L., Campbell K. P., Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE, 10.1126/science.1214115
  16. Roscioli Tony, Kamsteeg Erik-Jan, Buysse Karen, Maystadt Isabelle, van Reeuwijk Jeroen, van den Elzen Christa, van Beusekom Ellen, Riemersma Moniek, Pfundt Rolph, Vissers Lisenka E L M, Schraders Margit, Altunoglu Umut, Buckley Michael F, Brunner Han G, Grisart Bernard, Zhou Huiqing, Veltman Joris A, Gilissen Christian, Mancini Grazia M S, Delrée Paul, Willemsen Michèl A, Ramadža Danijela Petković, Chitayat David, Bennett Christopher, Sheridan Eamonn, Peeters Els A J, Tan-Sindhunata Gita M B, de Die-Smulders Christine E, Devriendt Koenraad, Kayserili Hülya, El-Hashash Osama Abd El-Fattah, Stemple Derek L, Lefeber Dirk J, Lin Yung-Yao, van Bokhoven Hans, Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan, 10.1038/ng.2253
  17. Vuillaumier-Barrot Sandrine, Bouchet-Séraphin Céline, Chelbi Malika, Devisme Louise, Quentin Samuel, Gazal Steven, Laquerrière Annie, Fallet-Bianco Catherine, Loget Philippe, Odent Sylvie, Carles Dominique, Bazin Anne, Aziza Jacqueline, Clemenson Alix, Guimiot Fabien, Bonnière Maryse, Monnot Sophie, Bole-Feysot Christine, Bernard Jean-Pierre, Loeuillet Laurence, Gonzales Marie, Socha Koryna, Grandchamp Bernard, Attié-Bitach Tania, Encha-Razavi Férechté, Seta Nathalie, Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly, 10.1016/j.ajhg.2012.10.009
  18. Willer Tobias, Lee Hane, Lommel Mark, Yoshida-Moriguchi Takako, de Bernabe Daniel Beltran Valero, Venzke David, Cirak Sebahattin, Schachter Harry, Vajsar Jiri, Voit Thomas, Muntoni Francesco, Loder Andrea S, Dobyns William B, Winder Thomas L, Strahl Sabine, Mathews Katherine D, Nelson Stanley F, Moore Steven A, Campbell Kevin P, ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome, 10.1038/ng.2252
  19. Cirak Sebahattin, Foley Aileen Reghan, Herrmann Ralf, Willer Tobias, Yau Shu, Stevens Elizabeth, Torelli Silvia, Brodd Lina, Kamynina Alisa, Vondracek Petr, Roper Helen, Longman Cheryl, Korinthenberg Rudolf, Marrosu Gianni, Nürnberg Peter, Michele Daniel E., Plagnol Vincent, Hurles Matt, Moore Steven A., Sewry Caroline A., Campbell Kevin P., Voit Thomas, Muntoni Francesco, ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies, 10.1093/brain/aws312
  20. Kobayashi Shun-ichi, Tokyo campus rising, 10.1038/28256
  21. Brockington Martin, Blake Derek J., Prandini Paola, Brown Susan C., Torelli Silvia, Benson Matthew A., Ponting Chris P., Estournet Brigitte, Romero Norma B., Mercuri Eugenio, Voit Thomas, Sewry Caroline A., Guicheney Pascale, Muntoni Francesco, Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan, 10.1086/324412
  22. Esapa C. T., Functional requirements for fukutin-related protein in the Golgi apparatus, 10.1093/hmg/11.26.3319
  23. Riemersma M., Sandrock J., Boltje T. J., Bull C., Heise T., Ashikov A., Adema G. J., van Bokhoven H., Lefeber D. J., Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal  -dystroglycan O-mannosylation, independent from sialic acid, 10.1093/hmg/ddu742
  24. Emanuelsson Olof, Brunak Søren, von Heijne Gunnar, Nielsen Henrik, Locating proteins in the cell using TargetP, SignalP and related tools, 10.1038/nprot.2007.131
  25. Gräwert Tobias, Groll Michael, Rohdich Felix, Bacher Adelbert, Eisenreich Wolfgang, Biochemistry of the non-mevalonate isoprenoid pathway, 10.1007/s00018-011-0753-z
  26. Rohdich F., Wungsintaweekul J., Eisenreich W., Richter G., Schuhr C. A., Hecht S., Zenk M. H., Bacher A., Biosynthesis of terpenoids: 4-Diphosphocytidyl-2C-methyl-D-erythritol synthase of Arabidopsis thaliana, 10.1073/pnas.97.12.6451
  27. Baur S., Marles-Wright J., Buckenmaier S., Lewis R. J., Vollmer W., Synthesis of CDP-Activated Ribitol for Teichoic Acid Precursors in Streptococcus pneumoniae, 10.1128/jb.01120-08
  28. Follens A., J. Bacteriol., 181, 2001 (1999)
  29. Pereira Mark P., Brown Eric D., Bifunctional Catalysis by CDP-ribitol Synthase:  Convergent Recruitment of Reductase and Cytidylyltransferase Activities inHaemophilus influenzaeandStaphylococcus aureus†, 10.1021/bi048866v
  30. Van Eldere J., Mol. Biol., 15, 107 (1995)
  31. Brown Stephanie, Santa Maria John P., Walker Suzanne, Wall Teichoic Acids of Gram-Positive Bacteria, 10.1146/annurev-micro-092412-155620
  32. Crisel R. M., J. Biol. Chem., 250, 4926 (1975)
  33. Percy Matthew G., Gründling Angelika, Lipoteichoic Acid Synthesis and Function in Gram-Positive Bacteria, 10.1146/annurev-micro-091213-112949
  34. Reichmann Nathalie T., Gründling Angelika, Location, synthesis and function of glycolipids and polyglycerolphosphate lipoteichoic acid in Gram-positive bacteria of the phylum Firmicutes : Synthesis and function of glycolipid and PGP-LTA, 10.1111/j.1574-6968.2011.02260.x
  35. Lynch Tracy A., Lam Le Thanh, Man Nguyen thi, Kobayashi Kazuhiro, Toda Tatsushi, Morris Glenn E., Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies, 10.1016/j.bbrc.2012.06.147
  36. Ishida Noriko, Irikura Daisuke, Matsuda Kazuhiro, Sato Seiji, Sone Teruo, Tanaka Michiko, Asano Kozo, Molecular Cloning and Expression of a Novel Cholinephosphotransferase Involved in Glycoglycerophospholipid Biosynthesis of Mycoplasma fermentans, 10.1007/s00284-009-9362-6
  37. Jigami Yoshifumi, Odani Tetsuji, Mannosylphosphate transfer to yeast mannan, 10.1016/s0304-4165(98)00134-2
  38. Knop J. K., J. Biol. Chem., 245, 2499 (1970)
  39. Ran F Ann, Hsu Patrick D, Wright Jason, Agarwala Vineeta, Scott David A, Zhang Feng, Genome engineering using the CRISPR-Cas9 system, 10.1038/nprot.2013.143
  40. Stevens Elizabeth, Torelli Silvia, Feng Lucy, Phadke Rahul, Walter Maggie C., Schneiderat Peter, Eddaoudi Ayad, Sewry Caroline A., Muntoni Francesco, Flow Cytometry for the Analysis of α-Dystroglycan Glycosylation in Fibroblasts from Patients with Dystroglycanopathies, 10.1371/journal.pone.0068958
  41. Zhang Ying, Zagnitko Olga, Rodionova Irina, Osterman Andrei, Godzik Adam, The FGGY Carbohydrate Kinase Family: Insights into the Evolution of Functional Specificities, 10.1371/journal.pcbi.1002318
  42. Kharat A. S., Denapaite D., Gehre F., Bruckner R., Vollmer W., Hakenbeck R., Tomasz A., Different Pathways of Choline Metabolism in Two Choline-Independent Strains of Streptococcus pneumoniae and Their Impact on Virulence, 10.1128/jb.00628-08
  43. Kim H., Chen J., Yu X., Ubiquitin-Binding Protein RAP80 Mediates BRCA1-Dependent DNA Damage Response, 10.1126/science.1139621
  44. Denapaite Dalia, Brückner Reinhold, Hakenbeck Regine, Vollmer Waldemar, Biosynthesis of Teichoic Acids inStreptococcus pneumoniaeand Closely Related Species: Lessons from Genomes, 10.1089/mdr.2012.0026
  45. Plummer T.H., Tarentino A.L., Purification of the oligosaccharide-cleaving enzymes of Flavobacterium meningosepticum, 10.1093/glycob/1.3.257
  46. Koutsioulis D., Landry D., Guthrie E. P, Novel endo- -N-acetylgalactosaminidases with broader substrate specificity, 10.1093/glycob/cwn069
  47. Combs Ariana C., Ervasti James M., Enhanced laminin binding by α-dystroglycan after enzymatic deglycosylation, 10.1042/bj20050375
  48. Pacharra Sandra, Hanisch Franz-Georg, Breloy Isabelle, Neurofascin 186 Is O-Mannosylated within and Outside of the Mucin Domain, 10.1021/pr200996y
  49. Beltrán-Valero de Bernabé Daniel, Currier Sophie, Steinbrecher Alice, Celli Jacopo, van Beusekom Ellen, van der Zwaag Bert, Kayserili Hülya, Merlini Luciano, Chitayat David, Dobyns William B., Cormand Bru, Lehesjoki Ana-Elina, Cruces Jesús, Voit Thomas, Walsh Christopher A., van Bokhoven Hans, Brunner Han G., Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome, 10.1086/342975
  50. Lommel M., Winterhalter P. R., Willer T., Dahlhoff M., Schneider M. R., Bartels M. F., Renner-Muller I., Ruppert T., Wolf E., Strahl S., Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion, 10.1073/pnas.1316753110
  51. Vester-Christensen M. B., Halim A., Joshi H. J., Steentoft C., Bennett E. P., Levery S. B., Vakhrushev S. Y., Clausen H., Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins, 10.1073/pnas.1313446110
  52. Yagi Hirokazu, Nakagawa Naoki, Saito Takuya, Kiyonari Hiroshi, Abe Takaya, Toda Tatsushi, Wu Sz-Wei, Khoo Kay-Hooi, Oka Shogo, Kato Koichi, AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan, 10.1038/srep03288
  53. Breloy Isabelle, Pacharra Sandra, Ottis Philipp, Bonar David, Grahn Ammi, Hanisch Franz-Georg, O-LinkedN,N′-Diacetyllactosamine (LacdiNAc)-modified Glycans in Extracellular Matrix Glycoproteins Are Specifically Phosphorylated at SubterminalN-Acetylglucosamine, 10.1074/jbc.m111.280297
  54. Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch H G, Zimmer K P, Wu R, Harms E, Reiter K, von Figura K, Freeze H H, Harms H K, Marquardt T, Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy., 10.1172/jci2350
  55. Tegtmeyer Laura C., Rust Stephan, van Scherpenzeel Monique, Ng Bobby G., Losfeld Marie-Estelle, Timal Sharita, Raymond Kimiyo, He Ping, Ichikawa Mie, Veltman Joris, Huijben Karin, Shin Yoon S., Sharma Vandana, Adamowicz Maciej, Lammens Martin, Reunert Janine, Witten Anika, Schrapers Esther, Matthijs Gert, Jaeken Jaak, Rymen Daisy, Stojkovic Tanya, Laforêt Pascal, Petit François, Aumaître Olivier, Czarnowska Elzbieta, Piraud Monique, Podskarbi Teodor, Stanley Charles A., Matalon Reuben, Burda Patricie, Seyyedi Soraya, Debus Volker, Socha Piotr, Sykut-Cegielska Jolanta, van Spronsen Francjan, de Meirleir Linda, Vajro Pietro, DeClue Terry, Ficicioglu Can, Wada Yoshinao, Wevers Ron A., Vanderschaeghe Dieter, Callewaert Nico, Fingerhut Ralph, van Schaftingen Emile, Freeze Hudson H., Morava Eva, Lefeber Dirk J., Marquardt Thorsten, Multiple Phenotypes in Phosphoglucomutase 1 Deficiency, 10.1056/nejmoa1206605
  56. Kanagawa Motoi, Kobayashi Kazuhiro, Tajiri Michiko, Manya Hiroshi, Kuga Atsushi, Yamaguchi Yoshiki, Akasaka-Manya Keiko, Furukawa Jun-ichi, Mizuno Mamoru, Kawakami Hiroko, Shinohara Yasuro, Wada Yoshinao, Endo Tamao, Toda Tatsushi, Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy, 10.1016/j.celrep.2016.02.017
  57. Riemersma Moniek, Froese D. Sean, van Tol Walinka, Engelke Udo F., Kopec Jolanta, van Scherpenzeel Monique, Ashikov Angel, Krojer Tobias, von Delft Frank, Tessari Marco, Buczkowska Anna, Swiezewska Ewa, Jae Lucas T., Brummelkamp Thijn R., Manya Hiroshi, Endo Tamao, van Bokhoven Hans, Yue Wyatt W., Lefeber Dirk J., Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation, 10.1016/j.chembiol.2015.10.014
  58. Hackbarth J. S., BioTechniques, 37, 835 (2004)
  59. Kunz S., Rojek J. M., Kanagawa M., Spiropoulou C. F., Barresi R., Campbell K. P., Oldstone M. B. A., Posttranslational Modification of  -Dystroglycan, the Cellular Receptor for Arenaviruses, by the Glycosyltransferase LARGE Is Critical for Virus Binding, 10.1128/jvi.79.22.14282-14296.2005
  60. Paddison Patrick J, Cleary Michele, Silva Jose Maria, Chang Kenneth, Sheth Nihar, Sachidanandam Ravi, Hannon Gregory J, Cloning of short hairpin RNAs for gene knockdown in mammalian cells, 10.1038/nmeth1104-163
  61. Fortpied Juliette, Maliekal Pushpa, Vertommen Didier, Van Schaftingen Emile, Magnesium-dependent Phosphatase-1 Is a Protein-Fructosamine-6-phosphatase Potentially Involved in Glycation Repair, 10.1074/jbc.m513208200
  62. Gerin Isabelle, Noël Gaëtane, Bolsée Jennifer, Haumont Olivier, Van Schaftingen Emile, Bommer Guido T., Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase, 10.1042/bj20130841
  63. Jordan M., Schallhorn A., Wurm F. M., Transfecting Mammalian Cells: Optimization of Critical Parameters Affecting Calcium-Phosphate Precipitate Formation, 10.1093/nar/24.4.596
  64. Hartwick Richard A., Brown Phyllis R., The performance of microparticle chemically-bonded anion-exchange resins in the analysis of nucleotides, 10.1016/s0021-9673(00)99994-1
  65. Haan Claude, Behrmann Iris, A cost effective non-commercial ECL-solution for Western blot detections yielding strong signals and low background, 10.1016/j.jim.2006.07.027