Publications by authors named "Elsa Wiame"

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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Elsa Wiame

Nat Commun· November 2025

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Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment.
Adam Benkirane, Thibault Warlop, Adrian Ivanoiu, Pierre Baret, Elsa Wiame

Front Neurol· January 2023

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K Akula, Elsa Wiame

Am J Hum Genet· February 2022

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NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.
Irena J J Muffels, Elsa Wiame, Sabine A Fuchs, Maarten P G Massink, Holger Rehmann

Brain Commun· October 2021

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C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, Elsa Wiame, Anja Holz

J Clin Invest· June 2021

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Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance.
Christos Dimitriou, Souha Saliba, Xavier Peyrassol, Wafa Ben Abbou, Marie Cécile Nassogne, Elsa Wiame

Clin Case Rep· June 2020

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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Joseph P Dewulf, Elsa Wiame, Imen Dorboz, Monique Elmaleh-Bergès, Apolline Imbard

Ann Neurol· March 2019

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NAT6 acetylates the N-terminus of different forms of actin.
Elsa Wiame, Gaëlle Tahay, Donatienne Tyteca, Didier Vertommen, Vincent Stroobant

FEBS J· September 2018

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Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
Stéphanie Paquay, Elsa Wiame, Naima Deggouj, Antonella Boschi, Romolo Daniele De Siati

Int J Pediatr Otorhinolaryngol· January 2018

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A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Wendy A Gold, Nara Sobreira, Elsa Wiame, Alexandre Marbaix, Emile Van Schaftingen

Am J Med Genet A· August 2017

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Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.
Valérie Ghilain, Elsa Wiame, Edward Fomekong, Marie-Françoise Vincent, Dana Dumitriu

Eur J Paediatr Neurol· September 2016

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Two new cases of serine deficiency disorders treated with l-serine.
A Brassier, V Valayannopoulos, N Bahi-Buisson, Elsa Wiame, L Hubert

Eur J Paediatr Neurol· January 2016

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A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.
Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame

PLoS One· November 2015

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3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Ichraf Kraoua, Elsa Wiame, Lilia Kraoua, Fehmi Nasrallah, Hanen Benrhouma

Neuropediatrics· October 2013

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A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.
Aurélie Méneret, Elsa Wiame, Cecilia Marelli, Timothée Lenglet, Emile Van Schaftingen

Arch Neurol· July 2012

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Enzymatic repair of Amadori products.
Emile Van Schaftingen, François Collard, Elsa Wiame, Maria Veiga-da-Cunha

Amino Acids· April 2012

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Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase.
Gaëlle Tahay, Elsa Wiame, Donatienne Tyteca, Pierre J Courtoy, Emile Van Schaftingen

Biochem J· January 2012

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Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.
Elsa Wiame, Donatienne Tyteca, Nathalie Pierrot, François Collard, Mustapha Amyere

Biochem J· December 2009

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Fructosamine 3-kinase and other enzymes involved in protein deglycation.
Emile Van Schaftingen, Ghislain Delpierre, François Collard, Juliette Fortpied, Rita Gemayel, Elsa Wiame

Adv Enzyme Regul· November 2007

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Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway.
Claire E Hart, Valerie Race, Younes Achouri, Elsa Wiame, Mark Sharrard

Am J Hum Genet· May 2007

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Identification of glucoselysine-6-phosphate deglycase, an enzyme involved in the metabolism of the fructation product glucoselysine.
Elsa Wiame, Pedro Lamosa, Helena Santos, Emile Van Schaftingen

Biochem J· December 2005

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Identification of enzymes acting on alpha-glycated amino acids in Bacillus subtilis.
Elsa Wiame, Armelle Duquenne, Ghislain Delpierre, Emile Van Schaftingen

FEBS Lett· November 2004

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Fructosamine 3-kinase-related protein and deglycation in human erythrocytes.
François Collard, Elsa Wiame, Niki Bergans, Juliette Fortpied, Didier Vertommen

Biochem J· August 2004

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Fructoselysine 3-epimerase, an enzyme involved in the metabolism of the unusual Amadori compound psicoselysine in Escherichia coli.
Elsa Wiame, Emile Van Schaftingen

Biochem J· March 2004

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Identification of a pathway for the utilization of the Amadori product fructoselysine in Escherichia coli.
Elsa Wiame, Ghislain Delpierre, Francois Collard, Emile Van Schaftingen

J Biol Chem· November 2002

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