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How Golgi glycosylation meets and needs trafficking: the case of the COG complex

Glycobiology (Oxford), 2011-07, Vol.21 (7), p.853-863

2011

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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

Italian journal of pediatrics, 2022-10, Vol.48 (1), p.1-178, Article 178

2022

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A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways

Chemical communications (Cambridge, England), 2016-02, Vol.52 (11), p.2318-2321

2016

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PUGNAc treatment leads to an unusual accumulation of free oligosaccharides in CHO cells

Journal of biochemistry (Tokyo), 2012-04, Vol.151 (4), p.439-446

2012

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

Human molecular genetics, 2009-02, Vol.18 (3), p.517-524

2009

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

Molecular genetics and metabolism reports, 2015-03, Vol.2 (C), p.16-19

2015

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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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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

The Journal of experimental medicine, 2017-12, Vol.214 (12), p.3707-3729

2017

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

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.335-338

2009

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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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Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

American journal of human genetics, 2008-05, Vol.82 (5), p.1150-1157

2008

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A novel Xenopus mix-like gene milk involved in the control of the endomesodermal fates

Development (Cambridge), 1998-07, Vol.125 (14), p.2577-2585

1998

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CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

American journal of human genetics, 2016-02, Vol.98 (2), p.310-321

2016

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Conserved Oligomeric Golgi Complex Subunit 1 Deficiency Reveals a Previously Uncharacterized Congenital Disorder of Glycosylation Type II

Proceedings of the National Academy of Sciences - PNAS, 2006-03, Vol.103 (10), p.3764-3769

2006

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

Human molecular genetics, 2009-11, Vol.18 (22), p.4350-4356

2009

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

Human molecular genetics, 2013-07, Vol.22 (14), p.2914-2928

2013

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Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG

Glycobiology (Oxford), 2015-06, Vol.25 (6), p.669-682

2015

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A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathwaysElectronic supplementary information (ESI) available. See DOI: 10.1039/c5cc08838k

2016-01

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OC-0031: Global changes in the glycosylation of irradiated endothelial cells with functional consequences

Radiotherapy and oncology, 2017-05, Vol.123, p.S10-S11

2017

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Activation of Pax6 depends on somitogenesis in the chick embryo cervical spinal cord

Development (Cambridge), 1999-02, Vol.126 (3), p.587-596

1999

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

Glycobiology (Oxford), 2009-08, Vol.19 (8), p.910-917

2009

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Pleurodeles waltl, amphibian, Urodele, is a suitable biological model for embryological and physiological space experiments on a vertebrate

Advances in space research, 2001, Vol.28 (4), p.569-578

2001

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Differentiation in microgravity of neural and muscle cells of a vertebrate (amphibian)

Advances in space research, 1998-01, Vol.22 (2), p.303-308

1998

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A novel TGF-beta-like gene, fugacin, specifically expressed in the Spemann organizer of Xenopus

Developmental biology, 1995-12, Vol.172 (2), p.699-703

1995

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Lineage Analysis of Early Neural Plate Cells: Cells with Purely Neuronal Fate Coexist with Bipotential Neuroglial Progenitors

Developmental biology, 1993-09, Vol.159 (1), p.196-207

1993

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How Golgi glycosylation meets and needs trafficking: the case of the COG complex

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report

A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways

PUGNAc treatment leads to an unusual accumulation of free oligosaccharides in CHO cells

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

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

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

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

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

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

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

A novel Xenopus mix-like gene milk involved in the control of the endomesodermal fates

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Conserved Oligomeric Golgi Complex Subunit 1 Deficiency Reveals a Previously Uncharacterized Congenital Disorder of Glycosylation Type II

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

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

Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG

A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathwaysElectronic supplementary information (ESI) available. See DOI: 10.1039/c5cc08838k

OC-0031: Global changes in the glycosylation of irradiated endothelial cells with functional consequences

Activation of Pax6 depends on somitogenesis in the chick embryo cervical spinal cord

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

Pleurodeles waltl, amphibian, Urodele, is a suitable biological model for embryological and physiological space experiments on a vertebrate

Differentiation in microgravity of neural and muscle cells of a vertebrate (amphibian)

A novel TGF-beta-like gene, fugacin, specifically expressed in the Spemann organizer of Xenopus

Lineage Analysis of Early Neural Plate Cells: Cells with Purely Neuronal Fate Coexist with Bipotential Neuroglial Progenitors

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