A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. (Q38290461)

1 September 2017

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. (English)

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congenital disorder of glycosylation

1 September 2017

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Barden Chan

1

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1 September 2017

Michelle Clasquin

2

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1 September 2017

Gromoslaw A Smolen

3

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1 September 2017

Gavin Histen

4

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1 September 2017

Josh Powe

5

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1 September 2017

Yue Chen

6

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1 September 2017

Zhizhong Lin

7

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1 September 2017

Chenming Lu

8

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1 September 2017

Yan Liu

9

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1 September 2017

Yong Cang

10

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1 September 2017

Zhonghua Yan

11

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1 September 2017

Yuanfeng Xia

12

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1 September 2017

Ryan Thompson

13

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1 September 2017

Chris Singleton

14

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1 September 2017

Marion Dorsch

15

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1 September 2017

Lee Silverman

16

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1 September 2017

Shin-San Michael Su

17

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1 September 2017

Hudson H Freeze

18

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1 September 2017

Shengfang Jin

19

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1 September 2017

5 April 2016

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1 September 2017

Human Molecular Genetics

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1 September 2017

25

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1 September 2017

2182-2193

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1 September 2017

11

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Mannose metabolism: more than meets the eye.

1 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

IGF binding proteins in cancer: mechanistic and clinical insights

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

The metabolic origins of mannose in glycoproteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

PTX3 as a paradigm for the interaction of pentraxins with the complement system

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Thrombotic complications in patients with PMM2-CDG.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Understanding human glycosylation disorders: biochemistry leads the charge

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Evidence of a role for insulin-like growth factor binding protein (IGFBP)-3 in metabolic regulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

N-linked glycosylation is essential for the stability but not the signaling function of the interleukin-6 signal transducer glycoprotein 130.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

The skeletal manifestations of the congenital disorders of glycosylation.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Screening and diagnosis of congenital disorders of glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

The immunoglobulin-like module of gp130 is required for signaling by interleukin-6, but not by leukemia inhibitory factor

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

IGF system in children with congenital disorders of glycosylation.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5081049

Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry

31 August 2018

1 reference

12 December 2020

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

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12 December 2020

Thyroid function in PMM2-CDG: diagnostic approach and proposed management

1 reference

12 December 2020

A new insight into PMM2 mutations in the French population

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12 December 2020

Quantification of human serum transferrin using liquid chromatography-tandem mass spectrometry based targeted proteomics

1 reference

12 December 2020

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDW085

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1 September 2017

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1 September 2017

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