(Q38924048)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552652%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid (English)

1 reference

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26 February 2020

4

1 reference

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26 February 2020

Torben Heise

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552652%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Hans van Bokhoven

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552652%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Moniek Riemersma

1

1 reference

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26 February 2020

Julia Sandrock

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25552652%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Thomas J Boltje

3

1 reference

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26 February 2020

Angel Ashikov

6

1 reference

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26 February 2020

Gosse J Adema

7

1 reference

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26 February 2020

Dirk J Lefeber

9

1 reference

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26 February 2020

publication date

30 December 2014

1 reference

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26 February 2020

published in

Human Molecular Genetics

1 reference

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26 February 2020

volume

24

1 reference

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26 February 2020

issue

8

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26 February 2020

page(s)

2241-2246

1 reference

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A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.

26 February 2020

cites work

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Dystroglycan-alpha, a dystrophin-associated glycoprotein, is a functional agrin receptor

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A stoichiometric complex of neurexins and dystroglycan in brain

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Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

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Dystroglycan organizes axon guidance cue localization and axonal pathfinding

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Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

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Structures of sialylated O-linked oligosaccharides of bovine peripheral nerve alpha-dystroglycan. The role of a novel O-mannosyl-type oligosaccharide in the binding of alpha-dystroglycan with laminin

21 January 2018

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O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding.

21 January 2018

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Identification of alpha-dystroglycan as a receptor for lymphocytic choriomeningitis virus and Lassa fever virus

21 January 2018

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Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry

21 January 2018

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Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport

21 January 2018

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Mouse large can modify complex N- and mucin O-glycans on alpha-dystroglycan to induce laminin binding

21 January 2018

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Enhanced laminin binding by alpha-dystroglycan after enzymatic deglycosylation

21 January 2018

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Targeting aberrant sialylation in cancer cells using a fluorinated sialic acid analog impairs adhesion, migration, and in vivo tumor growth.

21 January 2018

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Global metabolic inhibitors of sialyl- and fucosyltransferases remodel the glycome

21 January 2018

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Expression cloning of the Golgi CMP-sialic acid transporter

21 January 2018

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Functional expression of the CMP-sialic acid transporter in Escherichia coli and its identification as a simple mobile carrier.

21 January 2018

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LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.

21 January 2018

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Molecular recognition by LARGE is essential for expression of functional dystroglycan

21 January 2018

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The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine

21 January 2018

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Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection

21 January 2018

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Characterisation of CMP-sialic acid transporter substrate recognition.

21 January 2018

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A CMP-sialic acid transporter cloned from Arabidopsis thaliana.

21 January 2018

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Analysis of CMP-sialic acid transporter-like proteins in plants

21 January 2018

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation

21 January 2018

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Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

21 January 2018

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DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

21 January 2018

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Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

21 January 2018

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Ebola virus entry requires the cholesterol transporter Niemann-Pick C1

21 January 2018

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

21 January 2018

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21 January 2018

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