Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. (Q51092153)

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13 March 2020

title

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects (English)

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13 March 2020

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2

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13 March 2020

Peter Witters

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3

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13 March 2020

author name string

Willy Morelle

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1

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13 March 2020

Sunnie Wong

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4

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13 March 2020

Leslie Climer

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5

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13 March 2020

Vladimir Lupashin

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6

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13 March 2020

Gert Matthijs

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7

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13 March 2020

Therese Gadomski

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8

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13 March 2020

Jaak Jaeken

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13 March 2020

David Cassiman

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10

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13 March 2020

Eva Morava

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13 March 2020

François Foulquier

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language of work or name

English

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publication date

1 April 2017

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The Journal of Clinical Endocrinology and Metabolism

13 March 2020

published in

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volume

102

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13 March 2020

page(s)

1375-1386

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issue

4

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Human glycosylation disorders

13 March 2020

cites work

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12 December 2020

Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

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12 December 2020

FSGS permeability factor-associated nephrotic syndrome: remission after oral galactose therapy

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12 December 2020

Metabolic flux control in glycosylation.

1 reference

12 December 2020

The ortholog of human solute carrier family 35 member B1 (UDP-galactose transporter-related protein 1) is involved in maintenance of ER homeostasis and essential for larval development in Caenorhabditis elegans

1 reference

12 December 2020

Evidence for specific transport of uridine diphosphate galactose across the Golgi membrane of rat mammary gland

1 reference

12 December 2020

Understanding human glycosylation disorders: biochemistry leads the charge

1 reference

12 December 2020

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

1 reference

12 December 2020

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

1 reference

12 December 2020

Role of monosaccharide transport proteins in carbohydrate assimilation, distribution, metabolism, and homeostasis

1 reference

12 December 2020

AtUTr1, a UDP-glucose/UDP-galactose transporter from Arabidopsis thaliana, is located in the endoplasmic reticulum and up-regulated by the unfolded protein response

1 reference

12 December 2020

Deoxygenated Disaccharide Analogs as Specific Inhibitors of 1-4-Galactosyltransferase 1 and Selectin-mediated Tumor Metastasis

1 reference

12 December 2020

Mammalian Golgi apparatus UDP-N-acetylglucosamine transporter: molecular cloning by phenotypic correction of a yeast mutant

1 reference

12 December 2020

Analysis of protein glycosylation by mass spectrometry

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12 December 2020

Structural snapshots of beta-1,4-galactosyltransferase-I along the kinetic pathway

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12 December 2020

TMEM165 deficiency causes a congenital disorder of glycosylation

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12 December 2020

Congenital disorders of glycosylation

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12 December 2020

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

1 reference

12 December 2020

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

1 reference

12 December 2020

Fiji: an open-source platform for biological-image analysis

1 reference

12 December 2020

Multiple phenotypes in phosphoglucomutase 1 deficiency

1 reference

12 December 2020

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

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12 December 2020

Congenital disorders of glycosylation: new defects and still counting

1 reference

12 December 2020

Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety

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12 December 2020

Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum

1 reference

12 December 2020

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

1 reference

12 December 2020