The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development (Q35071017)

6 August 2017

The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development (English)

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6 August 2017

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Cromphout K

1

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6 August 2017

Vleugels W

2

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6 August 2017

Heykants L

3

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6 August 2017

Schollen E

4

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6 August 2017

Keldermans L

5

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6 August 2017

Sciot R

6

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6 August 2017

D'Hooge R

7

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6 August 2017

De Deyn PP

8

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6 August 2017

von Figura K

9

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6 August 2017

Hartmann D

10

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6 August 2017

Körner C

11

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6 August 2017

Matthijs G

12

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6 August 2017

language of work or name

English

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publication date

1 August 2006

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Molecular and Cellular Biology

6 August 2017

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6 August 2017

26

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6 August 2017

5621-5635

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6 August 2017

15

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Congenital disorders of glycosylation: the rapidly growing tip of the iceberg

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Congenital disorders of glycosylation: genetic model systems lead the way.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Protein C-mannosylation is enzyme-catalysed and uses dolichyl-phosphate-mannose as a precursor

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Cloning and characterization of human phosphomannomutase, a mammalian homologue of yeast SEC53.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Behavioral phenotypes of inbred mouse strains: implications and recommendations for molecular studies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Olivopontocerebellar atrophy in carbohydrate-deficient glycoprotein syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

beta-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1592770

Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2

27 September 2018

1 reference

12 December 2020

[Failure to thrive and intestinal diseases in congenital disorders of glycosylation]

1 reference

12 December 2020

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency

1 reference

12 December 2020

Identifiers

DOI

10.1128/MCB.02357-05

1 reference

6 August 2017

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6 August 2017

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