Citations for
1ISPD, LGMD
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
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.
Brain rain. 2013 Jan 3. [Epub ahead of print] 2013
2ISPD
Dystroglycan organizes axon guidance cue localization and axonal pathfinding.
Wright KM, Lyon KA, Leung H, Leahy DJ, Ma L, Ginty DD.
Neuron 76(5):931-44. doi: 10.1016/j.neuron.2012.10.009. 2012
3ISPD, WLKWS7
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
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.
Nat Genet 44(5):581-5. doi: 10.1038/ng.2253. 2012
4ISPD, WLKWS7
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
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.
Nat Genet 44(5):575-80. doi: 10.1038/ng.2252. 2012
5ISPD, TMEM5, WLKWS1, WLKWS2, WLKWS3, WLKWS4, WLKWS5, WLKWS7, WLKWS8
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly.
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.
Am J Hum Genet 91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009. 2012
6ISPD
Structural and functional studies of mycobacterial IspD enzymes.
Björkelid C, Bergfors T, Henriksson LM, Stern AL, Unge T, Mowbray SL, Jones TA.
Acta Crystallogr D Biol Crystallogr 67(Pt 5):403-14. doi: 10.1107/S0907444911006160. Epub 2011 Apr 8. 2011
7ISPD
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.
Gabrielsen M, Kaiser J, Rohdich F, Eisenreich W, Laupitz R, Bacher A, Bond CS, Hunter WN.
FEBS J 273(5):1065-73. 2006
8ISPD
Structure of 4-diphosphocytidyl-2-C- methylerythritol synthetase involved in mevalonate- independent isoprenoid biosynthesis.
Richard SB, Bowman ME, Kwiatkowski W, Kang I, Chow C, Lillo AM, Cane DE, Noel JP.
Nat Struct Biol 8(7):641-8. 2001