Sandrine Duvet

CNRS, UMR 8576-UGSF Unit. De Glycobiologie Structurale Et Fonctionnelle
Lille, 59000, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 15 publications

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 19, 2021

Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.

Variation of the serum N-glycosylation during the pregnancy of a MPI-CDG patient.

Journal: JIMD reports

Published: May 06, 2021

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

Journal: American journal of human genetics

Published: April 14, 2020

New insights into the ORF2 capsid protein, a key player of the hepatitis E virus lifecycle.

New insights into the ORF2 capsid protein, a key player of the hepatitis E virus lifecycle.

Journal: Scientific reports

Published: November 27, 2018

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.

Journal: Electrophoresis

Published: January 15, 2018

Investigating the function of Gdt1p in yeast Golgi glycosylation.

Investigating the function of Gdt1p in yeast Golgi glycosylation.

Journal: Biochimica et biophysica acta. General subjects

Published: May 05, 2017

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Journal: The Journal of experimental medicine

Published: March 10, 2017

Evidence for splice transcript variants of TMEM165, a gene involved in CDG.

Evidence for splice transcript variants of TMEM165, a gene involved in CDG.

Journal: Biochimica et biophysica acta. General subjects

Published: October 13, 2016

Manganese-induced turnover of TMEM165.

Manganese-induced turnover of TMEM165.

Journal: The Biochemical journal

Published: October 10, 2016

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

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

Journal: Human molecular genetics

Published: December 09, 2015

Accumulation of free oligosaccharides and tissue damage in cytosolic α-mannosidase (Man2c1)-deficient mice.

Accumulation of free oligosaccharides and tissue damage in cytosolic α-mannosidase (Man2c1)-deficient mice.

Journal: The Journal of biological chemistry

Published: February 20, 2014

Cohen syndrome is associated with major glycosylation defects.

Cohen syndrome is associated with major glycosylation defects.

Journal: Human molecular genetics

Published: December 17, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026