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Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis

Biochimica et biophysica acta. General subjects, 2020-10, Vol.1864 (10), p.129674-129674, Article 129674

2020

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COG defects, birth and rise

Biochimica et biophysica acta, 2009-09, Vol.1792 (9), p.896-902

Foulquier, François

2009

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TMEM165 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 & disease, 2022-01, Vol.13 (1), p.11-11, Article 11

2022

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Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

Human molecular genetics, 2016-04, Vol.25 (8), p.1489-1500

2016

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Congenital disorders of glycosylation (CDG): Quo vadis?

European journal of medical genetics, 2018-11, Vol.61 (11), p.643-663

2018

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Metalloglycobiology: The power of metals in regulating glycosylation

Biochimica et biophysica acta. General subjects, 2023-09, Vol.1867 (9), p.130412-130412, Article 130412

2023

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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

eLife, 2018-10, Vol.7

2018

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

Proceedings of the National Academy of Sciences - PNAS, 2013-04, Vol.110 (17), p.6859-6864

2013

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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

The journal of clinical endocrinology and metabolism, 2017-04, Vol.102 (4), p.1375-1386

2017

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SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

Human genetics, 2022-07, Vol.141 (7), p.1287-1298

2022

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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

Tissue & cell, 2017-04, Vol.49 (2), p.150-156

2017

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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Proceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (20), p.9865-9870

2019

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Golgi post-translational modifications and associated diseases

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.741-751

2015

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SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease

Biochimie, 2020-07, Vol.174, p.159-170

2020

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Insights into the regulation of cellular Mn2+ homeostasis via TMEM165

Biochimica et biophysica acta. Molecular basis of disease, 2023-08, Vol.1869 (6), p.166717-166717, Article 166717

2023

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Radiation-induced changes in the glycome of endothelial cells with functional consequences

Scientific reports, 2017-07, Vol.7 (1), p.5290-16, Article 5290

2017

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Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation

Scientific reports, 2016-04, Vol.6 (1), p.24282-24282, Article 24282

2016

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Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation

Human genetics, 2022-07, Vol.141 (7), p.1279-1286

2022

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Involvement of thapsigargin– and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165‐associated glycosylation defects by Mn2

The FASEB journal, 2019-02, Vol.33 (2), p.2669-2679

2019

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Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG

Journal of medical genetics, 2018-02, Vol.55 (2), p.137-142

2018

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N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity

Thrombosis and haemostasis, 2022-09, Vol.122 (9), p.1469-1478

2022

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Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

American journal of human genetics, 2022-08, Vol.109 (8), p.1484-1499

2022

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

Molecular genetics and metabolism, 2008, Vol.93 (1), p.15-21

2008

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

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.357-366

2020

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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

American journal of human genetics, 2012-07, Vol.91 (1), p.15-26

2012

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Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis

COG defects, birth and rise

TMEM165 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

Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis

Congenital disorders of glycosylation (CDG): Quo vadis?

Metalloglycobiology: The power of metals in regulating glycosylation

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

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

Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation

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

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

Golgi post-translational modifications and associated diseases

SPCA1 governs the stability of TMEM165 in Hailey-Hailey disease

Insights into the regulation of cellular Mn2+ homeostasis via TMEM165

Radiation-induced changes in the glycome of endothelial cells with functional consequences

Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation

Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation

Involvement of thapsigargin– and cyclopiazonic acid–sensitive pumps in the rescue of TMEM165‐associated glycosylation defects by Mn2

Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG

N-Glycosylation Deficiency Reduces the Activation of Protein C and Disrupts Endothelial Barrier Integrity

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

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

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

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

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