| 1 | ISPD, LGMD
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| ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
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| 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, Nürnberg P; UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.
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| Brain rain. 2013 Jan 3. [Epub ahead of print]
2013
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| 2 | ISPD
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| Dystroglycan organizes axon guidance cue localization and axonal pathfinding.
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| Wright KM, Lyon KA, Leung H, Leahy DJ, Ma L, Ginty DD.
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| Neuron 76(5):931-44. doi: 10.1016/j.neuron.2012.10.009.
2012
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| 3 | ISPD, WLKWS7
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| Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
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| Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, 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, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H.
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| Nat Genet 44(5):581-5. doi: 10.1038/ng.2253.
2012
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| 4 | ISPD, WLKWS7
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| ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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| Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP.
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| Nat Genet 44(5):575-80. doi: 10.1038/ng.2252.
2012
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| 5 | ISPD, TMEM5, WLKWS1, WLKWS2, WLKWS3, WLKWS4, WLKWS5, WLKWS7, WLKWS8
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| Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly.
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| Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.
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| Am J Hum Genet 91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
2012
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| 6 | ISPD
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| Structural and functional studies of mycobacterial IspD enzymes.
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| Björkelid C, Bergfors T, Henriksson LM, Stern AL, Unge T, Mowbray SL, Jones TA.
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| Acta Crystallogr D Biol Crystallogr 67(Pt 5):403-14. doi: 10.1107/S0907444911006160. Epub 2011 Apr 8.
2011
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| 7 | ISPD
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| The crystal structure of a plant 2C-methyl-D-erythritol 4-phosphate cytidylyltransferase exhibits a distinct quaternary structure compared to bacterial homologues and a possible role in feedback regulation for cytidine monophosphate.
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| Gabrielsen M, Kaiser J, Rohdich F, Eisenreich W, Laupitz R, Bacher A, Bond CS, Hunter WN.
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| FEBS J 273(5):1065-73.
2006
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| 8 | ISPD
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| Structure of 4-diphosphocytidyl-2-C- methylerythritol synthetase involved in mevalonate- independent isoprenoid biosynthesis.
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| Richard SB, Bowman ME, Kwiatkowski W, Kang I, Chow C, Lillo AM, Cane DE, Noel JP.
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| Nat Struct Biol 8(7):641-8.
2001
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