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

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

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

Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue

衰老会选择性地抑制白色和棕色脂肪组织中脂质含量的波动。

Held, Ntsiki M; Buijink, M Renate; Elfrink, Hyung L; Kooijman, Sander; Janssens, Georges E; Luyf, Angela C M; Pras-Raves, Mia L; Vaz, Frédéric M; Michel, Stephan; Houtkooper, Riekelt H; van Weeghel, Michel

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Sjögren-Larsson综合征中脑醚脂代谢紊乱和组织学改变

Staps, Pippa; Rizzo, William B; Vaz, Frédéric M; Bugiani, Marianna; Giera, Martin; Heijs, Bram; van Kampen, Antoine H C; Pras-Raves, Mia L; Breur, Marjolein; Groen, Annemieke; Ferdinandusse, Sacha; van der Graaf, Marinette; Van Goethem, Gert; Lammens, Martin; Wevers, Ron A; Willemsen, Michèl A A P

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

ACBD5缺陷小鼠的小脑和肝脏改变与细胞脂质稳态的意外、独特改变有关。

Darwisch, Warda; von Spangenberg, Marino; Lehmann, Jana; Singin, Öznur; Deubert, Geralt; Kühl, Sandra; Roos, Johannes; Horstmann, Heinz; Körber, Christoph; Hoppe, Simone; Zheng, Hongwei; Kuner, Thomas; Pras-Raves, Mia L; van Kampen, Antoine H C; Waterham, Hans R; Schwarz, Kathrin V; Okun, Jürgen G; Schultz, Christian; Vaz, Frédéric M; Islinger, Markus

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma

基于直接输注的代谢组学技术可识别患者干血斑和血浆中的代谢性疾病

Haijes, Hanneke A; Willemsen, Marcel; Van der Ham, Maria; Gerrits, Johan; Pras-Raves, Mia L; Prinsen, Hubertus C M T; Van Hasselt, Peter M; De Sain-van der Velden, Monique G M; Verhoeven-Duif, Nanda M; Jans, Judith J M

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

利用脂质组学对成纤维细胞中过氧化物酶体β-氧化障碍进行功能表征

Herzog, Katharina; Pras-Raves, Mia L; Ferdinandusse, Sacha; Vervaart, Martin A T; Luyf, Angela C M; van Kampen, Antoine H C; Wanders, Ronald J A; Waterham, Hans R; Vaz, Frédéric M