(Q32884430)

15 December 2017

title

The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan (English)

1 reference

15 December 2017

ribitol beta-1,4-xylosyltransferase activity

main subject

2 references

Gene Ontology release 2020-05-02

Gene Ontology ID

GO:0120053

Ribitol xylosyltransferase 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

Hiroshi Manya

1

1 reference

15 December 2017

Yoshiki Yamaguchi

2

1 reference

15 December 2017

Motoi Kanagawa

3

1 reference

15 December 2017

Kazuhiro Kobayashi

4

1 reference

15 December 2017

Michiko Tajiri

5

1 reference

15 December 2017

Keiko Akasaka-Manya

6

1 reference

15 December 2017

Hiroko Kawakami

7

1 reference

15 December 2017

Mamoru Mizuno

8

1 reference

15 December 2017

Yoshinao Wada

9

1 reference

15 December 2017

Tatsushi Toda

10

1 reference

15 December 2017

Tamao Endo

11

1 reference

15 December 2017

language of work or name

English

0 references

publication date

12 October 2016

1 reference

15 December 2017

Journal of Biological Chemistry

number of pages

10

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

15 December 2017

volume

291

1 reference

15 December 2017

issue

47

1 reference

15 December 2017

page(s)

24618-24627

1 reference

15 December 2017

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan addition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Glycobiology of α-dystroglycan and muscular dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Dystroglycan function requires xylosyl- and glucuronyltransferase activities of LARGE

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

A novel β(1,6)‐N‐acetylglucosaminyltransferase V (GnT‐VB)1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

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.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Molecular cloning and characterization of human GnT-IX, a novel beta1,6-N-acetylglucosaminyltransferase that is specifically expressed in the brain.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5114413

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1074%2FJBC.M116.751917

21 January 2018

Identifiers

DOI

10.1074/JBC.M116.751917

1 reference

15 December 2017

PMC publication ID

5114413

1 reference

15 December 2017

PubMed publication ID

27733679

1 reference

15 December 2017