340 related articles for article (PubMed ID: 21979053)
1. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
Taniguchi-Ikeda M; Kobayashi K; Kanagawa M; Yu CC; Mori K; Oda T; Kuga A; Kurahashi H; Akman HO; DiMauro S; Kaji R; Yokota T; Takeda S; Toda T
Nature; 2011 Oct; 478(7367):127-31. PubMed ID: 21979053
[TBL] [Abstract][Full Text] [Related]
2. [Current status and future prospects of research on Fukuyama muscular dystrophy].
Toda T
Nihon Rinsho; 2015 Aug; 73(8):1425-36. PubMed ID: 26281700
[TBL] [Abstract][Full Text] [Related]
3. Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Enkhjargal S; Sugahara K; Khaledian B; Nagasaka M; Inagaki H; Kurahashi H; Koshimizu H; Toda T; Taniguchi-Ikeda M
Hum Mol Genet; 2023 Apr; 32(8):1301-1312. PubMed ID: 36426838
[TBL] [Abstract][Full Text] [Related]
4. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan.
Kobayashi K; Kato R; Kondo-Iida E; Taniguchi-Ikeda M; Osawa M; Saito K; Toda T
J Hum Genet; 2017 Nov; 62(11):945-948. PubMed ID: 28680109
[TBL] [Abstract][Full Text] [Related]
5. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy.
Kanagawa M; Lu Z; Ito C; Matsuda C; Miyake K; Toda T
PLoS One; 2014; 9(9):e106721. PubMed ID: 25198651
[TBL] [Abstract][Full Text] [Related]
6. Post-transcriptional regulation of fukutin in an astrocytoma cell line.
Yamamoto T; Kato Y; Hiroi A; Shibata N; Osawa M; Kobayashi M
Int J Exp Pathol; 2012 Feb; 93(1):46-55. PubMed ID: 22264285
[TBL] [Abstract][Full Text] [Related]
7. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression.
Ohtsuka Y; Kanagawa M; Yu CC; Ito C; Chiyo T; Kobayashi K; Okada T; Takeda S; Toda T
Sci Rep; 2015 Feb; 5():8316. PubMed ID: 25661440
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
Xiong H; Wang S; Kobayashi K; Jiang Y; Wang J; Chang X; Yuan Y; Liu J; Toda T; Fukuyama Y; Wu X
Am J Med Genet A; 2009 Nov; 149A(11):2403-8. PubMed ID: 19842201
[TBL] [Abstract][Full Text] [Related]
10. 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; 287(11):8398-406. PubMed ID: 22275357
[TBL] [Abstract][Full Text] [Related]
11. Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H; Hosokawa M; Awaya T; Hagiwara A; Kurosawa R; Sako Y; Ogawa M; Ogasawara M; Noguchi S; Goto Y; Takahashi R; Nishino I; Hagiwara M
Mol Ther Nucleic Acids; 2023 Sep; 33():404-412. PubMed ID: 37547287
[TBL] [Abstract][Full Text] [Related]
12. [Recent Advances in α-dystroglycanopathy].
Kuga A; Kanagawa M; Toda T
Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471
[TBL] [Abstract][Full Text] [Related]
13. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U; Uyanik G; Heck PB; Smitka M; Nobel H; Ebinger F; Dirik E; Feng L; Kurul SH; Brocke K; Unalp A; Özer E; Cakmakci H; Sewry C; Cirak S; Muntoni F; Hehr U; Morris-Rosendahl DJ
Neuromuscul Disord; 2011 Jan; 21(1):20-30. PubMed ID: 20961758
[TBL] [Abstract][Full Text] [Related]
14. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.
Xiong H; Kobayashi K; Tachikawa M; Manya H; Takeda S; Chiyonobu T; Fujikake N; Wang F; Nishimoto A; Morris GE; Nagai Y; Kanagawa M; Endo T; Toda T
Biochem Biophys Res Commun; 2006 Dec; 350(4):935-41. PubMed ID: 17034757
[TBL] [Abstract][Full Text] [Related]
15. Exon-trapping mediated by the human retrotransposon SVA.
Hancks DC; Ewing AD; Chen JE; Tokunaga K; Kazazian HH
Genome Res; 2009 Nov; 19(11):1983-91. PubMed ID: 19635844
[TBL] [Abstract][Full Text] [Related]
16. New developments in exon skipping and splice modulation therapies for neuromuscular diseases.
Touznik A; Lee JJ; Yokota T
Expert Opin Biol Ther; 2014 Jun; 14(6):809-19. PubMed ID: 24620745
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 15351084
[TBL] [Abstract][Full Text] [Related]
18. Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients.
Yang H; Kobayashi K; Wang S; Jiao H; Xiao J; Toda T; Wu X; Xiong H
Brain Dev; 2015 Oct; 37(9):880-6. PubMed ID: 25814170
[TBL] [Abstract][Full Text] [Related]
19. 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; 10(2):169-79. PubMed ID: 20518731
[TBL] [Abstract][Full Text] [Related]
20. A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.
Costa C; Oliveira J; Gonçalves A; Santos R; Bronze-da-Rocha E; Rebelo O; Pais RP; Fineza I
Neuromuscul Disord; 2013 Jul; 23(7):557-61. PubMed ID: 23582336
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
