Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 (Q24291905)

protein O-linked glycosylation

GOA release 2020-03-11

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GOA release 2020-03-11

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14

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author name string

A Yoshida

1

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K Kobayashi

2

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H Manya

3

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K Taniguchi

4

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H Kano

5

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M Mizuno

6

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T Inazu

7

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H Mitsuhashi

8

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S Takahashi

9

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M Takeuchi

10

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R Herrmann

11

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V Straub

12

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B Talim

13

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T Voit

14

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H Topaloglu

15

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T Toda

16

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T Endo

The fukutin protein family--predicted enzymes modifying cell-surface molecules

17

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language of work or name

English

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publication date

November 2001

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published in

Developmental Cell

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volume

1

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page(s)

717-24

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issue

5

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Diagnostic criteria for Walker-Warburg syndrome

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O-mannosyl glycans in mammals

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Congenital progressive muscular dystrophy of the Fukuyama type - clinical, genetic and pathological considerations

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Overview of N- and O-linked oligosaccharide structures found in various yeast species

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Neuronal migration disorders: from genetic diseases to developmental mechanisms

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Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse

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Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

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An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

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Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation

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Glycosylation, immunity, and autoimmunity

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Fringe is a glycosyltransferase that modifies Notch

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Molecular cloning and characterization of cDNA coding for beta1, 2N-acetylglucosaminyltransferase I (GlcNAc-TI) from Nicotiana tabacum.

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

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X-ray crystal structure of rabbit N-acetylglucosaminyltransferase I: catalytic mechanism and a new protein superfamily

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Organization of the human beta-1,2-N-acetylglucosaminyltransferase I gene (MGAT1), which controls complex and hybrid N-glycan synthesis

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