List of works - François Foulquier

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

scientific article

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

scientific article published on 3 July 2009

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

scientific article

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

scientific article

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).

scientific article

Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells

scientific article

COG defects, birth and rise!

scientific article

COG5-CDG: expanding the clinical spectrum

scientific article published on 10 December 2012

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

scientific article

Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition

scientific article

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

scientific article published on 16 February 2007

Cohen syndrome is associated with major glycosylation defects

scientific article

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

scholarly article

Correction: COG5-CDG: expanding the clinical spectrum.

scientific article published on 14 August 2013

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

scientific article published on October 2012

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

scientific article published on 29 September 2007

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

scientific article

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.

scientific article published on 8 November 2010

Discrimination between lumenal and cytosolic sites of deglycosylation in endoplasmic reticulum-associated degradation of glycoproteins by using benzyl mannose in CHO cell lines

scientific article published on 2 June 2004

Endoplasmic reticulum-associated degradation of glycoproteins bearing Man5GlcNAc2 and Man9GlcNAc2 species in the MI8-5 CHO cell line

scientific article published on January 2004

Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells

scientific article published on 01 October 2019

Glycosylation disorders of membrane trafficking

scientific article published on 15 May 2012

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

scientific article published on 03 June 2009

How Golgi glycosylation meets and needs trafficking: the case of the COG complex

scientific article

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)

scientific article published on 16 February 2011

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

scientific article

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

scientific article

Insulin signaling controls the expression of O-GlcNAc transferase and its interaction with lipid microdomains

scientific article

MAN1B1 deficiency: an unexpected CDG-II

scientific article

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

scientific article

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

scientific article

Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway

scientific article published on 25 October 2010

PUGNAc treatment leads to an unusual accumulation of free oligosaccharides in CHO cells

scientific article

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

scientific article

RFT1 deficiency in three novel CDG patients

scientific article

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation

scientific article published on 24 October 2009

Screening for OST deficiencies in unsolved CDG-I patients

scientific article

TMEM165 deficiency causes a congenital disorder of glycosylation

scientific article

The unfolded protein response in a dolichyl phosphate mannose-deficient Chinese hamster ovary cell line points out the key role of a demannosylation step in the quality-control mechanism of N-glycoproteins

scientific article published on March 2002

List of works by François Foulquier

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation

A new mutation in COG7 extends the spectrum of COG subunit deficiencies

A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis

ALG11-CDG: Three novel mutations and further characterization of the phenotype.

Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).

Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells

COG defects, birth and rise!

COG5-CDG: expanding the clinical spectrum

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1.

Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

Cohen syndrome is associated with major glycosylation defects

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Correction: COG5-CDG: expanding the clinical spectrum.

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.

Discrimination between lumenal and cytosolic sites of deglycosylation in endoplasmic reticulum-associated degradation of glycoproteins by using benzyl mannose in CHO cell lines

Endoplasmic reticulum-associated degradation of glycoproteins bearing Man5GlcNAc2 and Man9GlcNAc2 species in the MI8-5 CHO cell line

Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells

Glycosylation disorders of membrane trafficking

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

How Golgi glycosylation meets and needs trafficking: the case of the COG complex

Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I)

Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Insulin signaling controls the expression of O-GlcNAc transferase and its interaction with lipid microdomains

MAN1B1 deficiency: an unexpected CDG-II

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway

PUGNAc treatment leads to an unusual accumulation of free oligosaccharides in CHO cells

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

RFT1 deficiency in three novel CDG patients

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation

Screening for OST deficiencies in unsolved CDG-I patients

TMEM165 deficiency causes a congenital disorder of glycosylation

The unfolded protein response in a dolichyl phosphate mannose-deficient Chinese hamster ovary cell line points out the key role of a demannosylation step in the quality-control mechanism of N-glycoproteins