(Q24316123)

protein O-linked mannosylation

GOA release 2020-03-11

1 reference

CDP-L-ribitol pyrophosphorylase A

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

35

0 references

Eamonn Sheridan

25

0 references

Hulya Kayserili

30

Hülya Kayserili

0 references

Yung-Yao Lin

Yung-Yao Lin

34

0 references

Christian Gilissen

Christian Gilissen

Danijela Petković Ramadža

18

0 references

22

Danijela Petković Ramadža

0 references

Joris A Veltman

Joris A Veltman

17

0 references

Han G. Brunner

14

Han G Brunner

0 references

Jeroen van Reeuwijk

5

Jeroen van Reeuwijk

0 references

Rolph Pfundt

9

Rolph Pfundt

0 references

Lisenka Vissers

10

Lisenka E L M Vissers

0 references

Tony Roscioli

1

Tony Roscioli

0 references

Erik-Jan Kamsteeg

2

Erik-Jan Kamsteeg

0 references

Ellen van Beusekom

7

Ellen van Beusekom

0 references

Grazia M S Mancini

19

Grazia M S Mancini

0 references

Michèl A A P Willemsen

21

Michèl A Willemsen

0 references

Dirk J Lefeber

33

Dirk J Lefeber

0 references

author name string

Karen Buysse

3

0 references

Isabelle Maystadt

4

0 references

Christa van den Elzen

6

0 references

Moniek Riemersma

8

0 references

Margit Schraders

11

0 references

Umut Altunoglu

12

0 references

Michael F Buckley

13

0 references

Bernard Grisart

15

0 references

Huiqing Zhou

16

0 references

Paul Delrée

20

0 references

David Chitayat

23

0 references

Christopher Bennett

24

0 references

Els A J Peeters

26

0 references

Gita M B Tan-Sindhunata

27

0 references

Christine E de Die-Smulders

28

0 references

Koenraad Devriendt

29

0 references

Osama Abd El-Fattah El-Hashash

31

0 references

Derek L Stemple

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

32

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language of work or name

English

0 references

publication date

May 2012

0 references

published in

Nature Genetics

0 references

volume

44

0 references

issue

5

0 references

page(s)

581-5

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

p53 activation by knockdown technologies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Proteomics of early zebrafish embryos

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Synthesis of CDP-Activated Ribitol for Teichoic Acid Precursors in Streptococcus pneumoniae

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Time-lapse analysis and mathematical characterization elucidate novel mechanisms underlying muscle morphogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Structure of a tetragonal crystal form of Escherichia coli 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

LARGE expression augments the glycosylation of glycoproteins in addition to α-dystroglycan conferring laminin binding

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

A dystroglycan mutation associated with limb-girdle muscular dystrophy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Planar cell polarity signalling couples cell division and morphogenesis during neurulation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Glyc-O-genetics of Walker-Warburg syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Three monophyletic superfamilies account for the majority of the known glycosyltransferases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Animal models for muscular dystrophy show different patterns of sarcolemmal disruption.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

30 May 2018

1 reference

A new mutation of the fukutin gene in a non-Japanese patient

21 January 2018

1 reference

O-glycosylation pattern of CD24 from mouse brain

21 January 2018

1 reference

Dystrophin is required for the formation of stable muscle attachments in the zebrafish embryo

21 January 2018

1 reference

Kinetic analysis of Escherichia coli 2-C-methyl-D-erythritol-4-phosphate cytidyltransferase, wild type and mutants, reveals roles of active site amino acids

21 January 2018

1 reference

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

21 January 2018

1 reference

Removal of dystroglycan causes severe muscular dystrophy in zebrafish embryos.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

Zebrafish mutants identify an essential role for laminins in notochord formation.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3378661

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22522421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2253

1 reference

Dimensions Publication ID

Altmetric DOI

10.1038/NG.2253

0 references

1013048141

0 references

1 reference

1 reference

PubMed publication ID

22522421

1 reference