These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Lim BC; Ki CS; Kim JW; Cho A; Kim MJ; Hwang H; Kim KJ; Hwang YS; Park WY; Lim YJ; Kim IO; Lee JS; Chae JH Neuromuscul Disord; 2010 Aug; 20(8):524-30. PubMed ID: 20620061 [TBL] [Abstract][Full Text] [Related]
5. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy. Larson AA; Baker PR; Milev MP; Press CA; Sokol RJ; Cox MO; Lekostaj JK; Stence AA; Bossler AD; Mueller JM; Prematilake K; Tadjo TF; Williams CA; Sacher M; Moore SA Skelet Muscle; 2018 May; 8(1):17. PubMed ID: 29855340 [TBL] [Abstract][Full Text] [Related]
6. [Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. Murakami T; Nishino I Brain Nerve; 2008 Oct; 60(10):1159-64. PubMed ID: 18975603 [TBL] [Abstract][Full Text] [Related]
7. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Puckett RL; Moore SA; Winder TL; Willer T; Romansky SG; Covault KK; Campbell KP; Abdenur JE Neuromuscul Disord; 2009 May; 19(5):352-6. PubMed ID: 19342235 [TBL] [Abstract][Full Text] [Related]
8. Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy. Foltz SJ; Luan J; Call JA; Patel A; Peissig KB; Fortunato MJ; Beedle AM Skelet Muscle; 2016; 6():20. PubMed ID: 27257474 [TBL] [Abstract][Full Text] [Related]
9. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Godfrey C; Clement E; Mein R; Brockington M; Smith J; Talim B; Straub V; Robb S; Quinlivan R; Feng L; Jimenez-Mallebrera C; Mercuri E; Manzur AY; Kinali M; Torelli S; Brown SC; Sewry CA; Bushby K; Topaloglu H; North K; Abbs S; Muntoni F Brain; 2007 Oct; 130(Pt 10):2725-35. PubMed ID: 17878207 [TBL] [Abstract][Full Text] [Related]
10. CDP-glycerol inhibits the synthesis of the functional Imae R; Manya H; Tsumoto H; Osumi K; Tanaka T; Mizuno M; Kanagawa M; Kobayashi K; Toda T; Endo T J Biol Chem; 2018 Aug; 293(31):12186-12198. PubMed ID: 29884773 [TBL] [Abstract][Full Text] [Related]
11. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Kanagawa M; Nishimoto A; Chiyonobu T; Takeda S; Miyagoe-Suzuki Y; Wang F; Fujikake N; Taniguchi M; Lu Z; Tachikawa M; Nagai Y; Tashiro F; Miyazaki J; Tajima Y; Takeda S; Endo T; Kobayashi K; Campbell KP; Toda T Hum Mol Genet; 2009 Feb; 18(4):621-31. PubMed ID: 19017726 [TBL] [Abstract][Full Text] [Related]
12. Muscular Dystrophy with Ribitol-Phosphate Deficiency: A Novel Post-Translational Mechanism in Dystroglycanopathy. Kanagawa M; Toda T J Neuromuscul Dis; 2017; 4(4):259-267. PubMed ID: 29081423 [TBL] [Abstract][Full Text] [Related]
13. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. 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 Nat Commun; 2016 May; 7():11534. PubMed ID: 27194101 [TBL] [Abstract][Full Text] [Related]
15. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Kanagawa M; Yu CC; Ito C; Fukada S; Hozoji-Inada M; Chiyo T; Kuga A; Matsuo M; Sato K; Yamaguchi M; Ito T; Ohtsuka Y; Katanosaka Y; Miyagoe-Suzuki Y; Naruse K; Kobayashi K; Okada T; Takeda S; Toda T Hum Mol Genet; 2013 Aug; 22(15):3003-15. PubMed ID: 23562821 [TBL] [Abstract][Full Text] [Related]
16. 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; ; Michele DE; Plagnol V; Hurles M; Moore SA; Sewry CA; Campbell KP; Voit T; Muntoni F Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328 [TBL] [Abstract][Full Text] [Related]
17. Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. Foltz SJ; Modi JN; Melick GA; Abousaud MI; Luan J; Fortunato MJ; Beedle AM PLoS One; 2016; 11(1):e0147049. PubMed ID: 26751696 [TBL] [Abstract][Full Text] [Related]
18. Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies. Endo T Acta Myol; 2005 Oct; 24(2):64-9. PubMed ID: 16550917 [TBL] [Abstract][Full Text] [Related]
19. The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. Manya H; Yamaguchi Y; Kanagawa M; Kobayashi K; Tajiri M; Akasaka-Manya K; Kawakami H; Mizuno M; Wada Y; Toda T; Endo T J Biol Chem; 2016 Nov; 291(47):24618-24627. PubMed ID: 27733679 [TBL] [Abstract][Full Text] [Related]
20. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan. Stevens E; Carss KJ; Cirak S; Foley AR; Torelli S; Willer T; Tambunan DE; Yau S; Brodd L; Sewry CA; Feng L; Haliloglu G; Orhan D; Dobyns WB; Enns GM; Manning M; Krause A; Salih MA; Walsh CA; Hurles M; Campbell KP; Manzini MC; ; Stemple D; Lin YY; Muntoni F Am J Hum Genet; 2013 Mar; 92(3):354-65. PubMed ID: 23453667 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]