日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

HEPES in Cell Culture Alters the Multi-Omics Profile Exhibited by Gaucher Disease Fibroblasts

HEPES在细胞培养中改变了戈谢病成纤维细胞的多组学特征

Corazolla, Eleonore M; Schomakers, Bauke V; Trętowicz, Maria M; Hermans, Jill; van Weeghel, Michel; Vaz, Frédéric M; Pras-Raves, Mia L; Vlugt, Karen Ghauharali-van der; Beers-Stet, Femke S; Goorden, Susanna M I; Jansen-Meijer, Judith; Janssens, Georges E; Hollak, Carla E M; Houtkooper, Riekelt H; van Kuilenburg, André B P

ENCORE: a practical implementation to improve reproducibility and transparency of computational research

ENCORE:提高计算研究可重复性和透明度的实用方法

van Kampen, Antoine H C; Mahamune, Utkarsh; Jongejan, Aldo; van Schaik, Barbera D C; Balashova, Daria; Lashgari, Danial; Pras-Raves, Mia; Wever, Eric J M; Dane, Adrie D; García-Valiente, Rodrigo; Moerland, Perry D

The shifting lipidomic landscape of blood monocytes and neutrophils during pneumonia

肺炎期间血液单核细胞和中性粒细胞脂质组学的变化

Alex R Schuurman, Osoul Chouchane, Joe M Butler, Hessel Peters-Sengers, Sebastiaan Joosten, Xanthe Brands, Bastiaan W Haak, Natasja A Otto, Fabrice Uhel, Augustijn Klarenbeek, Christine Ca van Linge, Antoine van Kampen, Mia Pras-Raves, Michel van Weeghel, Marco van Eijk, Maria J Ferraz, Daniël R Fab

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

CIAO1 和 MMS19 缺陷:由胞质铁硫簇蛋白组装障碍引起的致命性神经退行性表型

van Karnebeek, Clara D M; Tarailo-Graovac, Maja; Leen, René; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V; Pena, Izabella A; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L; Drögemöller, Britt I; Grootemaat, Anita E; van der Wel, Nicole N; Dobritzsch, Doreen; Roseboom, Winfried; Schomakers, Bauke V; Jaspers, Yorrick R J; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R; van der Lee, Robin; Ross, Colin J; Kochan, Jakub; McIntyre, Rebecca L; van Klinken, Jan B; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michèl A; Riva, Daria; Garavaglia, Barbara; Moeschler, John B; Filiano, James J; Ekker, Marc; Berman, Jason N; Dyment, David; Vaz, Frédéric M; Wasserman, Wyeth W; Houtkooper, Riekelt H; van Kuilenburg, André B P

Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry

利用离子阱迁移质谱法对X连锁肾上腺脑白质营养不良进行四维脂质组学分析

Jaspers, Yorrick R J; Meyer, Sven W; Pras-Raves, Mia L; Dijkstra, Inge M E; Wever, Eric J M; Dane, Adrie D; van Klinken, Jan-Bert; Salomons, Gajja S; Houtkooper, Riekelt H; Engelen, Marc; Kemp, Stephan; Van Weeghel, Michel; Vaz, Frédéric M

A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

一项为期一年的试点研究比较了基于直接进样高分辨率质谱的非靶向代谢组学与针对遗传性代谢疾病的靶向诊断筛查。

Willems, Anke P; van der Ham, Maria; Schiebergen-Bronkhorst, Birgit G M; van Aalderen, Mirjam; de Barse, Martina M J; De Gruyter, Fini E; van Hoek, Ilja N; Pras-Raves, Mia L; de Sain-van der Velden, Monique G M; Prinsen, Hubertus C M T; Verhoeven-Duif, Nanda M; Jans, Judith J M

Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown

Agmo 敲低后 3T3-L1 脂肪细胞脂质组对有缺陷的醚脂质分解代谢的适应性

Sabrina Sailer, Katharina Lackner, Mia L Pras-Raves, Eric J M Wever, Jan B van Klinken, Adriaan D Dane, Stephan Geley, Jakob Koch, Georg Golderer, Gabriele Werner-Felmayer, Markus A Keller, Werner Zwerschke, Frédéric M Vaz, Ernst R Werner, Katrin Watschinger

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

一种常染色体显性神经系统疾病,由 FAR1 的新生变异引起,导致醚脂质的合成不受控制

Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M Mooijer, Jos P N Ruiter, Alida E M van Lint, Mia Pras-Raves, Eric Wever, Francisca Millan, Maria J Guillen Sacoto, Amber Begtrup, Mark Tarnopolsky, Lauren Brady, Roger L Ladda, Susan L Sell, Catherine B Nowak, Jessica Do

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

更正:由FAR1基因新生突变引起的常染色体显性遗传神经系统疾病,导致醚脂合成失控。

Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos P N; van Lint, Alida E M; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Waisfisz, Quinten; Zwijnenburg, Petra J G; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M

Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men.

昼夜节律紊乱会扰乱健康年轻男性的骨骼肌脂质组

Harmsen Jan-Frieder, van Polanen Nynke, van Weeghel Michel, Wefers Jakob, Hoeks Joris, Vaz Frédéric M, Pras-Raves Mia L, van Kampen Antoine H C, Schaart Gert, van Moorsel Dirk, Hansen Jan, Hesselink Matthijs K C, Houtkooper Riekelt H, Schrauwen Patrick