Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (Q24621185)

2

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G Srikrishna

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D P Mehta

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S Peterson

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J Filiano

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P S Karnes

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M C Patterson

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H H Freeze

Journal of Clinical Investigation

9

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language of work or name

English

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publication date

January 2000

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published in

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volume

105

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issue

2

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page(s)

191-8

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cites work

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

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Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase

7 April 2017

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DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate

7 April 2017

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A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

7 April 2017

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A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells

7 April 2017

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Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

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Recognition signal for C-mannosylation of Trp-7 in RNase 2 consists of sequence Trp-x-x-Trp

7 April 2017

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

7 April 2017

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Assembly of asparagine-linked oligosaccharides

7 April 2017

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Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

7 April 2017

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

7 April 2017

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C-Mannosylation of human RNase 2 is an intracellular process performed by a variety of cultured cells

27 September 2017

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Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.

27 September 2017

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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

27 September 2017

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Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells

27 September 2017

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

27 September 2017

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Mutant of Chinese hamster ovary cells with altered mannose 6-phosphate receptor activity is unable to synthesize mannosylphosphoryldolichol

27 September 2017

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The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

27 September 2017

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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation

27 September 2017

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Carbohydrate-deficient glycoprotein syndrome.

30 May 2018

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Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis?

30 May 2018

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Brain contains HNK-1 immunoreactive O-glycans of the sulfoglucuronyl lactosamine series that terminate in 2-linked or 2,6-linked hexose (mannose).

30 May 2018

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Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

28 November 2018

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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

Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

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12 December 2020

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

1 reference

12 December 2020

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells

1 reference

12 December 2020

Separation of blood leucocytes, granulocytes and lymphocytes

1 reference

12 December 2020

The primary glycosylation defect in class E Thy-1-negative mutant mouse lymphoma cells is an inability to synthesize dolichol-P-mannose

1 reference

12 December 2020

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency

1 reference

12 December 2020

Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a patient with carbohydrate deficient syndrome type II

1 reference

12 December 2020

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency

1 reference

12 December 2020