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Items: 1 to 20 of 132

1.

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. doi: 10.1007/s00439-013-1302-7.

PMID:
23591631
2.

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 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314.

3.

Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery.

Qiao C, Wang CH, Zhao C, Lu P, Awano H, Xiao B, Li J, Yuan Z, Dai Y, Martin CB, Li J, Lu Q, Xiao X.

Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141.

4.

Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.

Ackroyd MR, Skordis L, Kaluarachchi M, Godwin J, Prior S, Fidanboylu M, Piercy RJ, Muntoni F, Brown SC.

Brain. 2009 Feb;132(Pt 2):439-51. doi: 10.1093/brain/awn335.

5.

A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans.

Krag TO, Vissing J.

J Neuropathol Exp Neurol. 2015 Dec;74(12):1137-46. doi: 10.1097/NEN.0000000000000260.

6.

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M, Yuva Y, Prandini P, Brown SC, Torelli S, Benson MA, Herrmann R, Anderson LV, Bashir R, Burgunder JM, Fallet S, Romero N, Fardeau M, Straub V, Storey G, Pollitt C, Richard I, Sewry CA, Bushby K, Voit T, Blake DJ, Muntoni F.

Hum Mol Genet. 2001 Dec 1;10(25):2851-9.

7.

Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).

Thornhill P, Bassett D, Lochmüller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078.

8.

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.

9.

Zebrafish models for human FKRP muscular dystrophies.

Kawahara G, Guyon JR, Nakamura Y, Kunkel LM.

Hum Mol Genet. 2010 Feb 15;19(4):623-33. doi: 10.1093/hmg/ddp528.

10.

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F.

Am J Hum Genet. 2001 Dec;69(6):1198-209.

11.

Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.

Vannoy CH, Xu L, Keramaris E, Lu P, Xiao X, Lu QL.

Hum Gene Ther Methods. 2014 Jun;25(3):187-96. doi: 10.1089/hgtb.2013.151.

12.

Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions.

Xu L, Lu PJ, Wang CH, Keramaris E, Qiao C, Xiao B, Blake DJ, Xiao X, Lu QL.

Mol Ther. 2013 Oct;21(10):1832-40. doi: 10.1038/mt.2013.156.

13.

[Recent advances in congenital muscular dystrophy research].

Nonaka I.

No To Hattatsu. 2005 Mar;37(2):115-21. Review. Japanese.

PMID:
15773323
14.

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.

Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA.

Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x.

PMID:
20236121
15.

FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.

Topaloglu H, Brockington M, Yuva Y, Talim B, Haliloglu G, Blake D, Torelli S, Brown SC, Muntoni F.

Neurology. 2003 Mar 25;60(6):988-92.

PMID:
12654965
16.

Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies.

Brown SC, Torelli S, Brockington M, Yuva Y, Jimenez C, Feng L, Anderson L, Ugo I, Kroger S, Bushby K, Voit T, Sewry C, Muntoni F.

Am J Pathol. 2004 Feb;164(2):727-37.

17.

Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected].

Wang CH, Chan YM, Tang RH, Xiao B, Lu P, Keramaris-Vrantsis E, Zheng H, Qiao C, Jiang J, Li J, Ma HI, Lu Q, Xiao X.

Am J Pathol. 2011 Jan;178(1):261-72. doi: 10.1016/j.ajpath.2010.11.020. Erratum in: Am J Pathol. 2011 Mar;178(3):1406.

18.

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. doi: 10.1016/j.ajpath.2015.03.017.

PMID:
25976249
19.

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK.

Cell Mol Life Sci. 2003 Feb;60(2):251-8. Review.

PMID:
12678490
20.

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. doi: 10.1016/j.nmd.2010.06.005.

PMID:
20620061
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