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Author Details

Fran??ois Foulquier
CNRS, Universite de Lille
1977
108
34
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37062452Insights into the regulation of cellular Mn<sup>2+</sup> homeostasis via TMEM165.Biochim Biophys Acta Mol Basis Dis2023
37416081New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions.Comput Struct Biotechnol J2023
37062452Insights into the regulation of cellular Mn<sup>2+</sup> homeostasis via TMEM165.Biochim Biophys Acta Mol Basis Dis2023
36980711TRPV6 Calcium Channel Targeting by Antibodies Raised against Extracellular Epitopes Induces Prostate Cancer Cell Apoptosis.Cancers (Basel)2023
37348823Metalloglycobiology: The power of metals in regulating glycosylation.Biochim Biophys Acta Gen Subj2023
37348823Metalloglycobiology: The power of metals in regulating glycosylation.Biochim Biophys Acta Gen Subj2023
37416081New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions.Comput Struct Biotechnol J2023
36980711TRPV6 Calcium Channel Targeting by Antibodies Raised against Extracellular Epitopes Induces Prostate Cancer Cell Apoptosis.Cancers (Basel)2023
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
35896117Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.Am J Hum Genet2022
36221102A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Ital J Pediatr2022
35693943Differential Effects of D-Galactose Supplementation on Golgi Glycosylation Defects in TMEM165 Deficiency.Front Cell Dev Biol2022
35717947N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity.Thromb Haemost2022
35045343Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.Am J Hum Genet2022
35182234Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.Hum Genet2022
34999954SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.Hum Genet2022
35262690CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.Hum Mol Genet2022
34873817Towards understanding the extensive diversity of protein N-glycan structures in eukaryotes.Biol Rev Camb Philos Soc2022
35693943Differential Effects of D-Galactose Supplementation on Golgi Glycosylation Defects in TMEM165 Deficiency.Front Cell Dev Biol2022
35717947N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity.Thromb Haemost2022
35896117Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.Am J Hum Genet2022
36221102A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Ital J Pediatr2022
35045343Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.Am J Hum Genet2022
35182234Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation.Hum Genet2022
34999954SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.Hum Genet2022
34873817Towards understanding the extensive diversity of protein N-glycan structures in eukaryotes.Biol Rev Camb Philos Soc2022
34180820[Reticular and Golgi glycosylation: Advances and associated diseases].Med Sci (Paris)2021
34180820[Reticular and Golgi glycosylation: Advances and associated diseases].Med Sci (Paris)2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
34765394Variation of the serum <i>N</i>-glycosylation during the pregnancy of a MPI-CDG patient.JIMD Rep2021
34930890TMEM165 a new player in proteoglycan synthesis: loss of TMEM165 impairs elongation of chondroitin- and heparan-sulfate glycosaminoglycan chains of proteoglycans and triggers early chondrocyte differentiation and hypertrophy.Cell Death Dis2021
33728255SLC37A4-CDG: Second patient.JIMD Rep2021
34930890TMEM165 a new player in proteoglycan synthesis: loss of TMEM165 impairs elongation of chondroitin- and heparan-sulfate glycosaminoglycan chains of proteoglycans and triggers early chondrocyte differentiation and hypertrophy.Cell Death Dis2021
34765394Variation of the serum <i>N</i>-glycosylation during the pregnancy of a MPI-CDG patient.JIMD Rep2021
31415112Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.J Inherit Metab Dis2020
32335229SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.Biochimie2020
32821050[Panorama on congenital disorders of glycosylation (CDG): from 1980 to 2020].Med Sci (Paris)2020
32599014Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.Biochim Biophys Acta Gen Subj2020
32700771Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.J Inherit Metab Dis2020
32733646Novel role for the Golgi membrane protein TMEM165 in control of migration and invasion for breast carcinoma.Oncotarget2020
31415112Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.J Inherit Metab Dis2020
32599014Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.Biochim Biophys Acta Gen Subj2020
32821050[Panorama on congenital disorders of glycosylation (CDG): from 1980 to 2020].Med Sci (Paris)2020
32733646Novel role for the Golgi membrane protein TMEM165 in control of migration and invasion for breast carcinoma.Oncotarget2020
32700771Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.J Inherit Metab Dis2020
32335229SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease.Biochimie2020
30307768Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn<sup>2</sup>.FASEB J2019
31652305Investigating the functional link between TMEM165 and SPCA1.Biochem J2019
30307768Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn<sup>2</sup>.FASEB J2019
31036665Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype.Proc Natl Acad Sci U S A2019
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Collaborators

Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 40
Jaak Jaeken
Co-authored papers 25
Sandrine Duvet
University Lille, CNRS
Co-authored papers 18
Romain P??anne
Center for Human Genetics
Co-authored papers 10
Dirk J Lefeber
Co-authored papers 7
Daisy Rymen
Center for Metabolic Diseases, University Hospitals of Leuven
Co-authored papers 7
Valérie Race
Co-authored papers 7
Dulce Quelhas
Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
Co-authored papers 6
Erika Souche
Center for Human Genetics
Co-authored papers 4
Riet Bammens
Co-authored papers 3
Thierry Hennet
Co-authored papers 3
Hudson H Freeze
Co-authored papers 3
Nathalie Seta
Co-authored papers 3
Kimiyo Raymond
Co-authored papers 3
Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 3
Han G Brunner
Maastricht University Medical Centre
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Stephanie Olivier-Van Stichelen
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Uwe Kornak
Institute of Human Genetics, University Medical Center Gottingen
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Yoshinao Wada
Osaka Women's and Children's Hospital
Co-authored papers 2
Janine Reunert
University Children's Hospital Munster
Co-authored papers 2
Martijn A Huynen
Radboud University Medical Centre Nijmegen
Co-authored papers 2
Arnaud Bruneel
Co-authored papers 2
Bobby G Ng
Co-authored papers 2
Sarah Edkins
Co-authored papers 1
Tiffany Pascreau
Co-authored papers 1
Miao He
Children's Hospital of Philadelphia
Co-authored papers 1
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Sergi Beltran
Hospital Universitari Vall d'Hebron
Co-authored papers 1
Julien H Park
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Release 1.2