François Foulquier Selected Research

Enzymes

1/2022	Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
11/2009	Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

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François Foulquier Research Topics

Disease

20	Congenital Disorders of Glycosylation 01/2023 - 04/2007
4	Congenital disorder of glycosylation type II 12/2018 - 04/2007
3	Neoplasms (Cancer) 03/2023 - 01/2017
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 09/2022 - 07/2020
2	Metabolic Diseases (Metabolic Disease) 01/2019 - 01/2013
2	Hypercholesterolemia 02/2016 - 02/2016
1	Prostatic Neoplasms (Prostate Cancer) 03/2023
1	Amelogenesis Imperfecta 07/2022
1	Joint Dislocations 07/2022
1	Neurodevelopmental Disorders 01/2022
1	Kidney Diseases (Kidney Disease) 01/2022
1	Autosomal Dominant Polycystic Kidney (ADPKD) 01/2022
1	NGLY1 deficiency 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)

14	Proteins (Proteins, Gene)FDA Link 01/2023 - 01/2013
6	LipidsIBA 06/2021 - 01/2013
3	GlycosyltransferasesIBA 06/2015 - 09/2009
3	Polysaccharides (Glycans)IBA 12/2013 - 04/2007
2	CalciumIBA 03/2023 - 10/2020
2	GlycosaminoglycansIBA 07/2022 - 12/2021
2	OligosaccharidesIBA 01/2022 - 05/2011
2	EnzymesIBA 01/2022 - 11/2009
2	SugarsIBA 10/2020 - 06/2015
2	Glycoproteins (Glycoprotein)IBA 02/2017 - 06/2015
2	Transaminases (Aminotransferases)IBA 02/2016 - 02/2016
2	Alkaline PhosphataseIBA 02/2016 - 02/2016
1	Calcium Channels (Calcium Channel)IBA 03/2023
1	TRPV6 channelIBA 03/2023
1	EpitopesIBA 03/2023
1	AntibodiesIBA 03/2023
1	CationsIBA 01/2023
1	phosphomannomutaseIBA 09/2022
1	Congenital disorder of glycosylation type 1AIBA 09/2022
1	GurIBA 01/2022
1	TRPP Cation ChannelsIBA 01/2022
1	ChondroitinIBA 12/2021
1	Heparitin Sulfate (Heparan Sulfate)IBA 12/2021
1	Proteoglycans (Proteoglycan)IBA 12/2021
1	Glucose-6-PhosphateIBA 03/2021
1	Protein Isoforms (Isoforms)IBA 11/2020
1	ZincIBA 10/2020
1	MagnesiumIBA 10/2020
1	ManganeseIBA 10/2020
1	MetalloproteinsIBA 10/2020
1	CobaltIBA 10/2020
1	Trace Elements (Biometals)IBA 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	LigandsIBA 02/2017
1	cyclophilin BIBA 02/2017
1	SulfotransferasesIBA 02/2017
1	Sulfates (Sulfates, Inorganic)IBA 02/2017
1	CopperIBA 02/2016
1	Ceruloplasmin (Ferroxidase)IBA 02/2016
1	Glycoside Hydrolases (Endoglycosidases)IBA 06/2015
1	NucleotidesIBA 06/2015
1	Membrane Proteins (Integral Membrane Proteins)IBA 05/2014
1	MonosaccharidesIBA 12/2013
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 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	Therapeutics 03/2023
1	Radiotherapy 01/2017
1	Liver Transplantation 02/2016