185 related articles for article (PubMed ID: 31988979)
21. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.
Gicquel E; Maizonnier N; Foltz SJ; Martin WJ; Bourg N; Svinartchouk F; Charton K; Beedle AM; Richard I
Hum Mol Genet; 2017 May; 26(10):1952-1965. PubMed ID: 28334834
[TBL] [Abstract][Full Text] [Related]
22. NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy.
Bailey EC; Alrowaished SS; Kilroy EA; Crooks ES; Drinkert DM; Karunasiri CM; Belanger JJ; Khalil A; Kelley JB; Henry CA
Skelet Muscle; 2019 Aug; 9(1):21. PubMed ID: 31391079
[TBL] [Abstract][Full Text] [Related]
23. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan.
Kuga A; Kanagawa M; Sudo A; Chan YM; Tajiri M; Manya H; Kikkawa Y; Nomizu M; Kobayashi K; Endo T; Lu QL; Wada Y; Toda T
J Biol Chem; 2012 Mar; 287(12):9560-7. PubMed ID: 22270369
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Efficacy of Gene Therapy Is Dependent on Disease Progression in Dystrophic Mice with Mutations in the FKRP Gene.
Vannoy CH; Xiao W; Lu P; Xiao X; Lu QL
Mol Ther Methods Clin Dev; 2017 Jun; 5():31-42. PubMed ID: 28480302
[TBL] [Abstract][Full Text] [Related]
26. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
Chan YM; Keramaris-Vrantsis E; Lidov HG; Norton JH; Zinchenko N; Gruber HE; Thresher R; Blake DJ; Ashar J; Rosenfeld J; Lu QL
Hum Mol Genet; 2010 Oct; 19(20):3995-4006. PubMed ID: 20675713
[TBL] [Abstract][Full Text] [Related]
27. Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration.
Awano H; Blaeser A; Keramaris E; Xu L; Tucker J; Wu B; Lu P; Lu QL
Am J Pathol; 2015 Jul; 185(7):2025-37. PubMed ID: 25976249
[TBL] [Abstract][Full Text] [Related]
28. [Limb-Girdle Muscular Dystrophy type R9 linked to the FKRP gene: state of the art and therapeutic perspectives].
Villar Quiles RN; Richard I; Bouchet-Seraphin C; Stojkovic T
Med Sci (Paris); 2020 Dec; 36 Hors série n° 2():28-33. PubMed ID: 33427633
[TBL] [Abstract][Full Text] [Related]
29. Expression of glycosylated α-dystroglycan in newborn skeletal and cardiac muscles of fukutin related protein (FKRP) mutant mice.
Keramaris E; Lu PJ; Tucker J; Lu QL
Muscle Nerve; 2017 Apr; 55(4):582-590. PubMed ID: 27515093
[TBL] [Abstract][Full Text] [Related]
30. Ribitol dose-dependently enhances matriglycan expression and improves muscle function with prolonged life span in limb girdle muscular dystrophy 2I mouse model.
Wu B; Drains M; Shah SN; Lu PJ; Leroy V; Killilee J; Rawls R; Tucker JD; Blaeser A; Lu QL
PLoS One; 2022; 17(12):e0278482. PubMed ID: 36454905
[TBL] [Abstract][Full Text] [Related]
31. ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F; Colombo I; Del Bo R; Previtali S; Brusa R; Ciscato P; Scarlato M; Ronchi D; D'Angelo MG; Corti S; Moggio M; Bresolin N; Comi GP
BMC Neurol; 2015 Sep; 15():172. PubMed ID: 26404900
[TBL] [Abstract][Full Text] [Related]
32. Limb girdle muscular dystrophy type 2I: No correlation between clinical severity, histopathology and glycosylated α-dystroglycan levels in patients homozygous for common FKRP mutation.
Alhamidi M; Brox V; Stensland E; Liset M; Lindal S; Nilssen Ø
Neuromuscul Disord; 2017 Jul; 27(7):619-626. PubMed ID: 28479227
[TBL] [Abstract][Full Text] [Related]
33. Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes.
Haro C; Uribe ML; Quereda C; Cruces J; Martín-Nieto J
Mol Vis; 2018; 24():43-58. PubMed ID: 29416295
[TBL] [Abstract][Full Text] [Related]
34. Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.
Blaeser A; Keramaris E; Chan YM; Sparks S; Cowley D; Xiao X; Lu QL
Hum Genet; 2013 Aug; 132(8):923-34. PubMed ID: 23591631
[TBL] [Abstract][Full Text] [Related]
35. The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition.
Praissman JL; Willer T; Sheikh MO; Toi A; Chitayat D; Lin YY; Lee H; Stalnaker SH; Wang S; Prabhakar PK; Nelson SF; Stemple DL; Moore SA; Moremen KW; Campbell KP; Wells L
Elife; 2016 Apr; 5():. PubMed ID: 27130732
[TBL] [Abstract][Full Text] [Related]
36. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.
Riemersma M; Froese DS; van Tol W; Engelke UF; Kopec J; van Scherpenzeel M; Ashikov A; Krojer T; von Delft F; Tessari M; Buczkowska A; Swiezewska E; Jae LT; Brummelkamp TR; Manya H; Endo T; van Bokhoven H; Yue WW; Lefeber DJ
Chem Biol; 2015 Dec; 22(12):1643-52. PubMed ID: 26687144
[TBL] [Abstract][Full Text] [Related]
37. Glycosylation with ribitol-phosphate in mammals: New insights into the O-mannosyl glycan.
Manya H; Endo T
Biochim Biophys Acta Gen Subj; 2017 Oct; 1861(10):2462-2472. PubMed ID: 28711406
[TBL] [Abstract][Full Text] [Related]
38. Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
Taniguchi-Ikeda M; Morioka I; Iijima K; Toda T
Mol Aspects Med; 2016 Oct; 51():115-24. PubMed ID: 27421908
[TBL] [Abstract][Full Text] [Related]
39. The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
Whitmore C; Fernandez-Fuente M; Booler H; Parr C; Kavishwar M; Ashraf A; Lacey E; Kim J; Terry R; Ackroyd MR; Wells KE; Muntoni F; Wells DJ; Brown SC
Hum Mol Genet; 2014 Apr; 23(7):1842-55. PubMed ID: 24234655
[TBL] [Abstract][Full Text] [Related]
40. FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy.
Wood AJ; Lin CH; Li M; Nishtala K; Alaei S; Rossello F; Sonntag C; Hersey L; Miles LB; Krisp C; Dudczig S; Fulcher AJ; Gibertini S; Conroy PJ; Siegel A; Mora M; Jusuf P; Packer NH; Currie PD
Nat Commun; 2021 May; 12(1):2951. PubMed ID: 34012031
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]