François Foulquier Selected Research

Congenital Disorders of Glycosylation

11/2020	Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
10/2020	Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.
1/2019	Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
1/2019	Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn2.
12/2018	Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
4/2017	TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
1/2017	Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.
4/2016	Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation.
6/2015	Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG.
12/2013	Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG).

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François Foulquier Research Topics

Disease

18	Congenital Disorders of Glycosylation 11/2020 - 04/2007
4	Congenital disorder of glycosylation type II 12/2018 - 04/2007
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 09/2022 - 07/2020
2	Neoplasms (Cancer) 06/2021 - 01/2017
2	Metabolic Diseases (Metabolic Disease) 01/2019 - 01/2013
2	Hypercholesterolemia 02/2016 - 02/2016
1	Amelogenesis Imperfecta 07/2022
1	Joint Dislocations 07/2022
1	NGLY1 deficiency 01/2022
1	Neurodevelopmental Disorders 01/2022
1	Hypertrophy 12/2021
1	Breast Neoplasms (Breast Cancer) 10/2018
1	Herpes Simplex 02/2017
1	Liver Failure 02/2016
1	Developmental Bone Diseases (Bone Dysplasia) 06/2015
1	Cohen syndrome 05/2014
1	Pathologic Processes 12/2013
1	Infections 09/2013
1	Intellectual Disability (Idiocy) 05/2008

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 06/2021 - 01/2013
6	LipidsIBA 06/2021 - 01/2013
3	GlycosyltransferasesIBA 06/2015 - 09/2009
3	Polysaccharides (Glycans)IBA 12/2013 - 04/2007
2	GlycosaminoglycansIBA 07/2022 - 12/2021
2	EnzymesIBA 01/2022 - 11/2009
2	OligosaccharidesIBA 01/2022 - 05/2011
2	SugarsIBA 10/2020 - 06/2015
2	Biological ProductsIBA 10/2020 - 07/2013
2	Glycoproteins (Glycoprotein)IBA 02/2017 - 06/2015
2	Transaminases (Aminotransferases)IBA 02/2016 - 02/2016
2	Alkaline PhosphataseIBA 02/2016 - 02/2016
1	phosphomannomutaseIBA 09/2022
1	Congenital disorder of glycosylation type 1AIBA 09/2022
1	Heparitin Sulfate (Heparan Sulfate)IBA 12/2021
1	Proteoglycans (Proteoglycan)IBA 12/2021
1	ChondroitinIBA 12/2021
1	Glucose-6-PhosphateIBA 03/2021
1	Protein Isoforms (Isoforms)IBA 11/2020
1	ManganeseIBA 10/2020
1	ZincIBA 10/2020
1	MetalloproteinsIBA 10/2020
1	CobaltIBA 10/2020
1	Trace Elements (Biometals)IBA 10/2020
1	CalciumIBA 10/2020
1	MagnesiumIBA 10/2020
1	Mannose (D-Mannose)IBA 12/2018
1	Antineoplastic Agents (Antineoplastics)IBA 10/2018
1	Deoxyglucose (2 Deoxy D glucose)IBA 10/2018
1	Hormones (Hormone)IBA 10/2018
1	cyclophilin BIBA 02/2017
1	LigandsIBA 02/2017
1	Sulfates (Sulfates, Inorganic)IBA 02/2017
1	SulfotransferasesIBA 02/2017
1	Ceruloplasmin (Ferroxidase)IBA 02/2016
1	CopperIBA 02/2016
1	NucleotidesIBA 06/2015
1	Glycoside Hydrolases (Endoglycosidases)IBA 06/2015
1	Membrane Proteins (Integral Membrane Proteins)IBA 05/2014
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 12/2013
1	MonosaccharidesIBA 12/2013
1	CholesterolIBA 09/2013
1	Transferrin (beta 2 Transferrin)IBA 07/2012
1	dolichyl-diphosphooligosaccharide - protein glycotransferase (oligosaccharyltransferase)IBA 05/2008
1	Nonsense Codon (Nonsense Mutation)IBA 04/2007

Therapy/Procedure

1	Radiotherapy 01/2017
1	Liver Transplantation 02/2016