Arnaud Bruneel

Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD ‐Related Neuropathies

Nicholas Moro, Stanislas Francois, Christel Grondin, Sirine Ben Salem et autres

BACKGROUND AND AIMS: To develop an assay to measure red blood cell (RBC) sorbitol dehydrogenase (SORD) activity for fast laboratory screening of SORD-related neuropathies, and to provide additional phenotypic arguments in case of ambiguous genetic results. METHODS: . The decrease in absorbance …

fr (code pays fourni par la source)

A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study

Lilia Kraoua, Thouraya Ben Younes, Monia El Asmi, Abir Zioudi et autres

Tunisie, fr (code pays fourni par la source)

β4GALT1-CDG Uncovers a Novel Mechanism of von Willebrand Factor Deficiency through Impaired Glycosylation and Accelerated Clearance

C Auditeau, Frédéric Adam, Arnaud Bruneel, F Fenaille et autres

Introduction Congenital disorders of glycosylation (CDG) are rare multisystemic diseases caused by defects in protein and lipid glycosylation. β4GALT1-CDG, due to B4GALT1 mutations, impairs N-glycan galactosylation, leading to coagulopathy and thrombocytopenia. However, mechanisms underlying the bleeding phenotype remain poorly understood. Here, we …

fr (code pays fourni par la source)

Oral D-mannose therapy during pregnancy in a woman with MPI-CDG: A case report and management review

Lionel Martzolff, Alexandre Raynor, Elodie Lebredonchel, Sara Marescaux et autres

fr (code pays fourni par la source)

ATP6AP2 ‐Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female

Alexandre Raynor, Jean‐Madeleine de Sainte Agathe, Merel A. Post, Magalie Barth et autres

ATP6AP2 splicing variants cause syndromic X-linked intellectual disability Hedera type (XPDS; OMIM#300423) and X-linked parkinsonism with spasticity (MRXSH; OMIM#300911). Alternatively, ATP6AP2 missense variants lead to hepatopathy, immunological abnormalities, cutis laxa and only mild intellectual disability with N-/O-glycosylation defects (ATP6AP2-CDG; OMIM#301045). The disparity …

fr, nl, gr, us, be, pt (code pays fourni par la source)

Diagnostic biochimique des désordres congénitaux de la glycosylation

Alexandre Raynor, François Fenaille, Elodie Lebredonchel, François Foulquier et autres

N-Glycan–Dependent Proinflammatory Effects of IgM in Anti-MAG Neuropathy

Jean Neil, François Fenaille, Arnaud Bruneel, Tanya Stojkovic et autres

BACKGROUND AND OBJECTIVES: Anti-myelin-associated glycoprotein (anti-MAG) neuropathy is a chronic demyelinating neuropathy with deposits of IgM and sural nerve fiber demyelination. While growing evidence supports the critical role of IgG glycosylation in autoimmune diseases, IgM glycosylation profiles markedly differ from those of …

fr (code pays fourni par la source)

Expanding the phenotype of SORD mutation

R. Pruvost, Arnaud Bruneel, Nicolas Dochez, Grégory Kuchcinski et autres

Roxane Pruvost, Arnaud Bruneel, Nicolas Dochez, Grégory Kuchcinski, Vianney Poinsignon, Céline Tard; Expanding the phenotype of SORD mutation, Brain, , awa

fr (code pays fourni par la source)

Nicotinamide metabolism reprogramming drives reversible senescence of glioblastoma cells

Ashwin Narayanan, Mirca Saras Saurty-Seerunghen, Jessica Michieletto, Virgile Delaunay et autres

Recent studies show that metabolites, beyond their metabolic roles, can induce significant changes in cell behavior. Herein, we investigate the non-canonical role of nicotinamide (vitamin B3) on glioblastoma (GB) cell behavior. Nicotinamide induced senescence in GB cells, characterized by reduced proliferation, chromatin …

fr, gb, us (code pays fourni par la source)

A biallelic variant in GORASP1 causes a novel Golgipathy with glycosylation and mitotic defects

Sophie Lebon, Arnaud Bruneel, Séverine Drunat, Alexandra Albert et autres

GRASP65 is a Golgi-associated peripheral protein encoded by the GORASP1 gene and required for Golgi cisternal stacking in vitro. A key role of GRASP65 in the regulation of cell division has also been suggested. However, depletion of GRASP65 in mice has little …

fr (code pays fourni par la source)

Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation

Alexandre Raynor, Élodie Lebredonchel, François Foulquier, François Fenaille et autres

fr (code pays fourni par la source)

Nicotinamide Metabolism Reprogramming Drives Reversible Senescence of Glioblastoma Cells

Ashwin Narayanan, Mirca Saras Saurty-Seerunghen, Jessica Michieletto, Virgile Delaunay et autres

Abstract Recent studies show that metabolites, beyond their metabolic roles, can induce significant changes in cell behavior. Herein, we investigate the non-canonical role of nicotinamide (vitamin B3) on glioblastoma (GB) cell behavior. Nicotinamide induced senescence in GB cells, characterized by reduced proliferation, …

fr, gb, us (code pays fourni par la source)