Publications by authors named "Mia L Pras-Raves"

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A conserved complex lipid signature marks human muscle aging and responds to short-term exercise.
Georges E Janssens, Marte Molenaars, Katharina Herzog, Lotte Grevendonk, Carlijn M E Remie, Martin A T Vervaart, Hyung L Elfrink, Eric J M Wever, Bauke V Schomakers, Simone W Denis

Nat Aging· May 2024

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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Clara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, Rutger Meinsma, Solenne Correard, Mia L Pras-Raves

Genet Med· June 2024

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Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry.
Yorrick R J Jaspers, Sven W Meyer, Mia L Pras-Raves, Inge M E Dijkstra, Eric J M Wever

J Lipid Res· June 2024

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Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Frédéric M Vaz, Pippa Staps, Jan Bert van Klinken, Henk van Lenthe, Martin Vervaart, Mia L Pras-Raves

Biochim Biophys Acta Mol Cell Biol Lipids· March 2024

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A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Anke P Willems, Maria van der Ham, Birgit G M Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M J de Barse, Mia L Pras-Raves

Front Mol Biosci· November 2023

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Alterations in ether lipid metabolism and the consequences for the mouse lipidome.
Katharina Lackner, Sabrina Sailer, Jan-Bert van Klinken, Eric Wever, Mia L Pras-Raves

Biochim Biophys Acta Mol Cell Biol Lipids· April 2023

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Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Merel E Hermans, Michel van Weeghel, Frédéric M Vaz, Sacha Ferdinandusse, Carla E M Hollak, Mia L Pras-Raves

J Inherit Metab Dis· November 2022

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Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown.
Sabrina Sailer, Katharina Lackner, Mia L Pras-Raves, Eric J M Wever, Jan B van Klinken

J Lipid Res· June 2022

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Time-restricted feeding during the inactive phase abolishes the daily rhythm in mitochondrial respiration in rat skeletal muscle.
Paul de Goede, Rob C I Wüst, Bauke V Schomakers, Simone Denis, Frédéric M Vaz, Mia L Pras-Raves

FASEB J· February 2022

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Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.
Jan-Frieder Harmsen, Nynke van Polanen, Michel van Weeghel, Jakob Wefers, Joris Hoeks, Mia L Pras-Raves

FASEB J· June 2021

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Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation.
Marte Molenaars, Bauke V Schomakers, Hyung L Elfrink, Arwen W Gao, Martin A T Vervaart, Mia L Pras-Raves

Dis Model Mech· April 2021

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Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue.
Ntsiki M Held, M Renate Buijink, Hyung L Elfrink, Sander Kooijman, Georges E Janssens, Mia L Pras-Raves

Sci Rep· March 2021

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Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Pippa Staps, William B Rizzo, Frédéric M Vaz, Marianna Bugiani, Martin Giera, Mia L Pras-Raves

J Inherit Metab Dis· November 2020

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Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
Warda Darwisch, Marino von Spangenberg, Jana Lehmann, Öznur Singin, Geralt Deubert, Mia L Pras-Raves

Commun Biol· November 2020

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Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Suzan J G Knottnerus, Mia L Pras-Raves, Maria van der Ham, Sacha Ferdinandusse, Riekelt H Houtkooper

Biochim Biophys Acta Mol Basis Dis· June 2020

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Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Lynne Rumping, Mia L Pras-Raves, Johan Gerrits, Yuen Fung Tang, Marcel A Willemsen

Biochim Biophys Acta Gen Subj· March 2020

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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Frédéric M Vaz, John H McDermott, Mariëlle Alders, Saskia B Wortmann, Stefan Kölker, Mia L Pras-Raves

Brain· November 2019

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Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Jeannette C Bleeker, Irene L Kok, Sacha Ferdinandusse, W Ludo van der Pol, Inge Cuppen, Mia L Pras-Raves

J Inherit Metab Dis· May 2019

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Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity.
Fleurieke H Verhagen, Edwin C A Stigter, Mia L Pras-Raves, Boudewijn M T Burgering, Saskia M Imhof

Am J Ophthalmol· February 2019

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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Hanneke A Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L Pras-Raves

Metabolites· January 2019

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Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.
Katharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, Martin A T Vervaart, Angela C M Luyf

J Inherit Metab Dis· May 2018

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Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
Katharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, Martin A T Vervaart, Angela C M Luyf

J Inherit Metab Dis· May 2018

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Vitamin B6 is essential for serine de novo biosynthesis.
Rúben J Ramos, Mia L Pras-Raves, Johan Gerrits, Maria van der Ham, Marcel Willemsen

J Inherit Metab Dis· November 2017

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Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry.
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, Hubertus C M T Prinsen, Marcel Willemsen, Mia L Pras-Raves

Anal Chim Acta· August 2017

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A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans.
Arwen W Gao, Iliana A Chatzispyrou, Rashmi Kamble, Yasmine J Liu, Katharina Herzog, Mia L Pras-Raves

Sci Rep· May 2017

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