Author

Sandra M.P. Meulemans

KU Leuven

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:metabolomics· 1 Organism:mouse· 1 Assay:proteomics· 1

Frequent Co-Authors

Anne Maria RochtusiD· 2 shared John W.M. CreemersiD· 2 shared Karen RosieriD· 2 shared Kritika BhallaiD· 2 shared Patrizia AgostinisiD· 2 shared Yenthe MonnensiD· 2 shared Aleksandar AntanasijeviciD· 1 shared Alexia MahyiD· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersNeuroscience

Anne Maria RochtusORCID

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2 papers

Recent·Most cited

Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome 22 and Prader Willi Syndrome

Kritika Bhalla, Karen Rosier, Yenthe Monnens, Sandra M.P. Meulemans, Ellen Vervoort, Lieven Thorrez, Patrizia Agostinis, Daniel T. Meier, Anne Maria Rochtus, James L. Resnick, John W.M. Creemers

This study identifies shared metabolic pathways between CMS22 and PWS, showing mitochondrial dysfunction and potential therapeutic targets through PREPL.

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · Apr 16, 2024Peer-reviewedNeuroscience

Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions

Yenthe Monnens, Anastasia Theodoropoulou, Karen Rosier, Kritika Bhalla, Alexia Mahy, Roeland Vanhoutte, Sandra M.P. Meulemans, Edoardo Cavani, Aleksandar Antanasijevic, Irma H. Lemmens, Jennifer A. Lee, C. J. Spellicy, Richard J. Schroer, Richardo A. Maselli, Chamindra G. Laverty, , John W.M. Creemers

The paper investigates missense mutations in PREPL in CMS22 patients, showing they affect non-hydrolytic functions without impairing hydrolase activity.

bioRxiv · Dec 18, 2023 · PreprintGenetics