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Items: 1 to 20 of 142

1.

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H.

Neuromuscul Disord. 2006 Feb;16(2):132-6. Epub 2006 Jan 19.

PMID:
16427280
2.

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H.

Clin Biochem. 2003 Jul;36(5):339-44.

PMID:
12849864
3.

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P.

Neuromuscul Disord. 2008 Jan;18(1):45-51. Epub 2007 Sep 14.

PMID:
17869517
4.

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo T.

Biochem Biophys Res Commun. 2003 Jun 20;306(1):93-7.

PMID:
12788071
5.
6.

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Yoshida A, Kobayashi K, Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T, Endo T.

Dev Cell. 2001 Nov;1(5):717-24.

7.

Glycosylation in congenital muscular dystrophies.

Endo T, Toda T.

Biol Pharm Bull. 2003 Dec;26(12):1641-7. Review.

8.

[Clinical and mutation analysis of a Chinese family with muscle eye brain disease].

Jiao H, Xiong H, Zhang YZ, Wang S, Yang YL, Wu XR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):481-4. doi: 10.3760/cma.j.issn.1003-9406.2011.05.001. Chinese.

PMID:
21983716
9.

Creatine kinase activity in normal and Duchenne muscular dystrophy fibroblasts.

Davis MH, Cappel R, Vester JW, Samaha FJ, Gruenstein E.

Muscle Nerve. 1982 Jan;5(1):1-6.

PMID:
7057800
11.

O-mannosylation in mammalian cells.

Endo T, Manya H.

Methods Mol Biol. 2006;347:43-56.

PMID:
17072003
12.

A new beta-1,2-N-acetylglucosaminyltransferase that may play a role in the biosynthesis of mammalian O-mannosyl glycans.

Takahashi S, Sasaki T, Manya H, Chiba Y, Yoshida A, Mizuno M, Ishida H, Ito F, Inazu T, Kotani N, Takasaki S, Takeuchi M, Endo T.

Glycobiology. 2001 Jan;11(1):37-45.

PMID:
11181560
13.

N-Acetylglucosaminyltransferase IX acts on the GlcNAc beta 1,2-Man alpha 1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan.

Inamori K, Endo T, Gu J, Matsuo I, Ito Y, Fujii S, Iwasaki H, Narimatsu H, Miyoshi E, Honke K, Taniguchi N.

J Biol Chem. 2004 Jan 23;279(4):2337-40. Epub 2003 Nov 14.

14.

Ectopia of meningeal fibroblasts and reactive gliosis in the cerebral cortex of the mouse model of muscle-eye-brain disease.

Yang Y, Zhang P, Xiong Y, Li X, Qi Y, Hu H.

J Comp Neurol. 2007 Dec 10;505(5):459-77.

PMID:
17924568
15.
16.
17.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T.

Hum Mol Genet. 2003 Mar 1;12(5):527-34.

PMID:
12588800
18.

[Defective O-mannosyl glycosylation causes congenital muscular dystrophies].

Manya H, Endo T.

Tanpakushitsu Kakusan Koso. 2004 Nov;49(15 Suppl):2451-6. Review. Japanese. No abstract available.

PMID:
15553000
19.

Effects of length and amino acid sequence of O-mannosyl peptides on substrate specificity of protein O-linked mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGnT1).

Akasaka-Manya K, Manya H, Mizuno M, Inazu T, Endo T.

Biochem Biophys Res Commun. 2011 Jul 8;410(3):632-6. doi: 10.1016/j.bbrc.2011.06.042. Epub 2011 Jun 13.

PMID:
21684258
20.

[Immunohistochemical studies of a variant of congenital muscular dystrophy].

Yoshioka M, Sugie K, Nishino I, Toda T.

No To Hattatsu. 2004 Jan;36(1):55-9. Japanese.

PMID:
14737865

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