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Results: 1 to 20 of 148

1.

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 1;22(15):3003-15. doi: 10.1093/hmg/ddt157. Epub 2013 Apr 4.

PMID:
23562821
[PubMed - indexed for MEDLINE]
2.

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 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.

PMID:
19017726
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy.

Beedle AM, Turner AJ, Saito Y, Lueck JD, Foltz SJ, Fortunato MJ, Nienaber PM, Campbell KP.

J Clin Invest. 2012 Sep 4;122(9):3330-42. doi: 10.1172/JCI63004. Epub 2012 Aug 27.

PMID:
22922256
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. Epub 2010 Jul 30.

PMID:
20675713
[PubMed - indexed for MEDLINE]
Free Article
5.

Adeno-associated viral-mediated LARGE gene therapy rescues the muscular dystrophic phenotype in mouse models of dystroglycanopathy.

Yu M, He Y, Wang K, Zhang P, Zhang S, Hu H.

Hum Gene Ther. 2013 Mar;24(3):317-30. doi: 10.1089/hum.2012.084.

PMID:
23379513
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.

Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, Oka A, Mizuguchi M, Itoh M, Voit T, Kato Y, Kobayashi M, Saito K, Osawa M.

Brain Dev. 2004 Oct;26(7):469-79.

PMID:
15351084
[PubMed - indexed for MEDLINE]
7.

Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of ╬▒-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 16;287(12):9560-7. doi: 10.1074/jbc.M111.271767. Epub 2012 Jan 23.

PMID:
22270369
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs.

Yamamoto T, Shibata N, Saito Y, Osawa M, Kobayashi M.

Cent Nerv Syst Agents Med Chem. 2010 Jun 1;10(2):169-79. Review.

PMID:
20518731
[PubMed - indexed for MEDLINE]
9.

[Alpha-dystroglycanopathy (FCMD, MEB, etc): abnormal glycosylation and muscular dystrophy].

Toda T.

Rinsho Shinkeigaku. 2005 Nov;45(11):932-4. Japanese.

PMID:
16447766
[PubMed - indexed for MEDLINE]
10.

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. Epub 2007 Sep 18.

PMID:
17878207
[PubMed - indexed for MEDLINE]
Free Article
11.

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

Thornhill P, Bassett D, Lochm├╝ller H, Bushby K, Straub V.

Brain. 2008 Jun;131(Pt 6):1551-61. doi: 10.1093/brain/awn078. Epub 2008 May 13.

PMID:
18477595
[PubMed - indexed for MEDLINE]
Free Article
12.

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. Epub 2009 Dec 1.

PMID:
19955119
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.

Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.

Ann Neurol. 2006 Nov;60(5):603-10.

PMID:
17044012
[PubMed - indexed for MEDLINE]
14.

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. Epub 2009 Jan 20.

PMID:
19155270
[PubMed - indexed for MEDLINE]
Free Article
15.

[Pathomechanism and therapeutic strategy of Fukuyama congenital muscular dystrophy and related disorders].

Toda T.

Rinsho Shinkeigaku. 2009 Nov;49(11):859-62. Review. Japanese.

PMID:
20030231
[PubMed - indexed for MEDLINE]
16.

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.

Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K.

Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.

PMID:
12893968
[PubMed - indexed for MEDLINE]
17.

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. Epub 2001 Oct 8.

PMID:
11592034
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.

Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T.

Hum Mol Genet. 2006 Apr 15;15(8):1279-89. Epub 2006 Mar 10.

PMID:
16531417
[PubMed - indexed for MEDLINE]
Free Article
19.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E.

Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18.

PMID:
19299310
[PubMed - indexed for MEDLINE]
20.

Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.

Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T.

J Biol Chem. 2012 Mar 9;287(11):8398-406. doi: 10.1074/jbc.M111.300905. Epub 2012 Jan 24.

PMID:
22275357
[PubMed - indexed for MEDLINE]
Free PMC Article

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