ALG11-CDG: Three novel mutations and further characterization of the phenotype. |
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Apport de l'électrophorèse capillaire pour l'étude des anomalies de glycosylation de protéines liées à des pathologies : vers l'identification de nouveaux biomarqueurs |
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Assessing ER and Golgi N-glycosylation process using metabolic labeling in mammalian cultured cells |
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Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. |
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Characterization of novel CDG-I defects : New insights in dolichol cycle regulation and ER quality control |
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Characterization of O-GlcNAc cycling and proteomic identification of differentially O-GlcNAcylated proteins during G1/S transition |
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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients |
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COG defects, birth and rise! |
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Cohen syndrome is associated with major glycosylation defects |
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Contribution of capillary electrophoresis for the study of disease-associated modifications in protein glycosylation : towards the identification of new biomarkers. |
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Correction: COG5-CDG: expanding the clinical spectrum. |
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Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1. |
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Doux à l'extrême : l'impact des sucres sur les maladies. |
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DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. |
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Etude de la fonction de TMEM165 dans la glycosylation golgienne et de sa dégradation induite par le manganèse |
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Etude de l'hémostase et de l'endothélium dans les déficits héréditaires de la glycosylation des protéines (CDG) |
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Etude des mécanismes d'adressage et de maturation de la protéine de capside ORF2 du virus de l'hépatite E |
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Etude du lien fonctionnel entre deux régulateurs de l'homéostasie golgienne du Ca2+ et du Mn2+, TMEM165 et SPCA1, dans un modèle pathologique, la maladie de Hailey-Hailey |
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Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells |
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Glycosylation involvement in B cell pathophysiology. |
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Golgi function and dysfunction in the first COG4-deficient CDG type II patient |
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How Golgi glycosylation meets and needs trafficking: the case of the COG complex |
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Identification de l'origine moléculaire d'une maladie dans un groupe de patients atteints de troubles congénitaux de la glycosylation. |
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Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II |
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Impact of PUGNAc on N-glycoproteins catabolism. |
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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. |
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Implication de la glycosylation dans la physiopathologie des lymphocytes B : Etude du syndrome de Gougerot-Sjögren, du lupus érythémateux et de la leucémie lymphoïde chronique |
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Implication of O-GlcNAcylation in intracellular trafficking : Impact of O-GlcNAc Transferase (OGT) on the positioning of the endolysosomal system and mapping of its proximal interactome by BioID. |
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Influence of glycans on the fate of N-glycoproteins. |
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Insights into TMEM165 function in Golgi glycosylation and lysosomal Mn-induced degradation. |
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Insulin signaling controls the expression of O-GlcNAc transferase and its interaction with lipid microdomains |
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MAN1B1 deficiency: an unexpected CDG-II |
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Mécanismes ioniques dans l'adaptation tumorale |
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Molecular and evolutionary bases of the biosynthesis of polysialylation : study of fish polysialyltransferases enzymatic specificities |
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N- Glycosylation and related diseases : study of two majors players Man2C1 and Gdt1. |
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N-glycosylation et pathologies associées : étude de deux acteurs majeurs Man2C1 et Gdt1 |
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A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation |
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A new mutation in COG7 extends the spectrum of COG subunit deficiencies |
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Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells |
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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation |
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Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway |
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PUGNAc treatment leads to an unusual accumulation of free oligosaccharides in CHO cells |
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Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient |
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A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis |
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Régulation de l’homéostasie cellulaire du Mn : rôles insoupçonnés de TMEM165, SERCA et SPCA1. |
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Régulation de la O-glycosylation par les ions Ca et Mn : leçons issues de l’étude de TMEM165-CDG et SLC10A7-CDG. |
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RFT1 deficiency in three novel CDG patients |
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Rôle de la SELENOT dans la régulation de l'homéostasie du réticulum endoplasmique dans les neurones à POMC |
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Rôle(s) de la protéine O-fucosyltransférase 1 au cours de la différenciation myogénique |
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Screening for OST deficiencies in unsolved CDG-I patients |
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Study of the functionnal link between two regulators of Ca2+ and Mn2+ Golgi homeostasis, TMEM165 and SPCA1, in a pathological model, Hailey-Hailey disease. |
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Study of the proteolytic maturation and intracellular trafficking mechanisms of the hepatitis E virus ORF2 capsid protein. |
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Sweet to the extreme : the impact of sugar diseases |
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TMEM165 deficiency causes a congenital disorder of glycosylation |
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Troubles congénitaux de la glycosylation et TMEM165 : un nouvel acteur dans la biosynthèse des protéoglycanes. |
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The unfolded protein response in a dolichyl phosphate mannose-deficient Chinese hamster ovary cell line points out the key role of a demannosylation step in the quality-control mechanism of N-glycoproteins |
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