Emile Van Schaftingen
Université Catholique de Louvain
H-index: 84
Europe-Belgium
Top articles of Emile Van Schaftingen
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A novel gluconeogenic route enables efficient use of erythritol in zoonotic Brucella | Frontiers in Veterinary Science | Leticia Lázaro-Antón Maria Veiga-da-Cunha Aitor Elizalde-Bielsa Nathalie Chevalier Raquel Conde-Álvarez | 2024/3/27 |
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants | Neurology: Genetics | Saskia B Wortmann Rene G Feichtinger Lucia Abela Loes A van Gemert Mélodie Aubart | 2024/4/5 |
SGLT5 is the renal transporter for 1, 5-anhydroglucitol, a major player in two rare forms of neutropenia | Cellular and Molecular Life Sciences | Jennifer Diederich Pierre Mounkoro Hernan A Tirado Nathalie Chevalier Emile Van Schaftingen | 2023/9 |
Treatment of the neutropenia associated with GSD1b and G6PC3 deficiency with SGLT2 inhibitors | Maria Veiga-da-Cunha Saskia B Wortmann Sarah C Grünert Emile Van Schaftingen | 2023/5/19 | |
A protein mutated in Parkinson's disease prevents damage of metabolites and proteins caused by a glycolytic metabolite | The FASEB Journal | Isaac P Heremans Francesco Caligiore Isabelle Gerin Marina Bury Marilena Lutz | 2022/5 |
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder | The American Journal of Human Genetics | Nuno Maia Sven Potelle Hamide Yildirim Sandrine Duvet Shyam K Akula | 2022/2/3 |
Parkinson's disease protein PARK7 prevents metabolite and protein damage caused by a glycolytic metabolite | Proceedings of the National Academy of Sciences | Isaac P Heremans Francesco Caligiore Isabelle Gerin Marina Bury Marilena Lutz | 2022/1/25 |
Oral SGLT2 inhibitors in glycogen storage disease type Ib and G6PC3-deficiency. Preliminary results from an off-label study of 21 patients | Blood | Jean Donadieu Aurelia Alimi Anais Brassier Blandine Beaupain Camille Wicker | 2022/11/15 |
Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates | Cellular and Molecular Life Sciences | Francesco Caligiore Erika Zangelmi Carola Vetro Takfarinas Kentache Joseph P Dewulf | 2022/8 |
Successful use of empagliflozin to treat neutropenia in two G6PC3‐deficient children: Impact of a mutation in SGLT5 | Journal of inherited metabolic disease | Cécile Boulanger Xavier Stephenne Jennifer Diederich Pierre Mounkoro Nathalie Chevalier | 2022/7 |
SLC37A4‐CDG: Second patient | JIMD reports | Matthew P Wilson Dulce Quelhas Elisa Leão‐Teles Luisa Sturiale Daisy Rymen | 2021/3 |
ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism | Journal of Biological Chemistry | Joseph P Dewulf Stéphanie Paquay Etienne Marbaix Younès Achouri Emile Van Schaftingen | 2021/10/1 |
Energy metabolism| hexokinase/Glucokinase | Emile Van Schaftingen | 2021/1/1 | |
Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? | Journal of inherited metabolic disease | Sarah Fogh Graziana Dipace Anne Bie Maria Veiga‐da‐Cunha Jakob Hansen | 2021/9 |
Eva Morava, Ulrich A. Schatz, 2, 3 Pernille M. Torring, 4 Mary-Alice Abbott, 5 Matthias Baumann, 6 Charlotte Brasch-Andersen, 4, 7 Nathalie Chevalier, 8 Ulrike Dunkhase-Heinl … | Emile Van Schaftingen Maria Veiga-da-Cunha | 2021 | |
Two novel homozygous mutations in phosphoglucomutase 3 leading to severe combined immunodeficiency, skeletal dysplasia, and malformations | Journal of clinical immunology | Mathieu Fusaro Aline Vincent Martin Castelle Jérémie Rosain Benjamin Fournier | 2021/7 |
The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate | Journal of Biological Chemistry | Takfarinas Kentache Leopold Thabault Gladys Deumer Vincent Haufroid Raphaël Frédérick | 2021/1/1 |
Impaired glucose-1, 6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Morava Ulrich A Schatz Pernille M Torring Mary-Alice Abbott Matthias Baumann | 2021/6/3 |
Molecular damage in aging | Vadim N Gladyshev Stephen B Kritchevsky Steven G Clarke Ana Maria Cuervo Oliver Fiehn | 2021/12 | |
A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in C2orf69 | medRxiv | Eva Lausberg Sebastian Gießelmann Joseph P Dewulf Elsa Wiame Anja Holz | 2021/3/12 |
