Lista de obras - François Foulquier - Dominio Público Uruguay

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

COG defects, birth and rise!

artículo científico publicado en 2008

COG5-CDG: expanding the clinical spectrum

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Cohen syndrome is associated with major glycosylation defects

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Correction: COG5-CDG: expanding the clinical spectrum.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2004

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

artículo científico publicado en 2019

Glycosylation disorders of membrane trafficking

artículo científico

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

MAN1B1 deficiency: an unexpected CDG-II

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

RFT1 deficiency in three novel CDG patients

artículo científico publicado en 2009

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

artículo científico publicado en 2009

Screening for OST deficiencies in unsolved CDG-I patients

artículo científico publicado en 2009

TMEM165 deficiency causes a congenital disorder of glycosylation

artículo científico publicado en 2012

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

artículo científico publicado en 2002

Lista de obras de 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