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

Studying the topology of peroxisomal acyl-CoA synthetases using self-assembling split sfGFP

利用自组装分裂型sfGFP研究过氧化物酶体酰基辅酶A合成酶的拓扑结构

Serhii Chornyi,Janet Koster,Lodewijk IJlst,Hans R Waterham

Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5'-phosphate homeostasis protein

细胞内维生素B6水平和线粒体氧化功能的维持依赖于磷酸吡哆醛稳态蛋白。

Jolita Ciapaite,Carlo W T van Roermund,Marjolein Bosma,Johan Gerrits,Sander M Houten,Lodewijk IJlst,Hans R Waterham,Clara D M van Karnebeek,Ronald J A Wanders,Fried J T Zwartkruis,Judith J Jans,Nanda M Verhoeven-Duif

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

荷兰引入新生儿筛查后发现的线粒体三功能蛋白缺乏症患者的遗传、生化和临床谱

Schwantje, Marit; Fuchs, Sabine A; de Boer, Lonneke; Bosch, Annet M; Cuppen, Inge; Dekkers, Eugenie; Derks, Terry G J; Ferdinandusse, Sacha; Ijlst, Lodewijk; Houtkooper, Riekelt H; Maase, Rose; van der Pol, W Ludo; de Vries, Maaike C; Verschoof-Puite, Rendelien K; Wanders, Ronald J A; Williams, Monique; Wijburg, Frits; Visser, Gepke

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

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation

缺乏 VLCAD 的 hiPSC 心肌细胞的电生理异常不会因肉碱补充而改善

Arie O Verkerk, Suzan J G Knottnerus, Vincent Portero, Jeannette C Bleeker, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Gepke Visser, Ronald J A Wanders, Frits A Wijburg, Connie R Bezzina, Isabella Mengarelli, Riekelt H Houtkooper

Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters

过氧化物酶体ATP的摄取由两种腺嘌呤核苷酸转运蛋白和ABCD转运蛋白提供。

van Roermund, Carlo W T; IJlst, Lodewijk; Linka, Nicole; Wanders, Ronald J A; Waterham, Hans R

Low SARS-CoV-2 seroprevalence in blood donors in the early COVID-19 epidemic in the Netherlands

荷兰新冠疫情早期献血者中SARS-CoV-2血清阳性率较低

Slot, Ed; Hogema, Boris M; Reusken, Chantal B E M; Reimerink, Johan H; Molier, Michel; Karregat, Jan H M; IJlst, Johan; Novotný, Věra M J; van Lier, René A W; Zaaijer, Hans L

Peroxisomal Metabolite and Cofactor Transport in Humans

人类过氧化物酶体代谢物和辅因子转运

Chornyi, Serhii; IJlst, Lodewijk; van Roermund, Carlo W T; Wanders, Ronald J A; Waterham, Hans R

Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency

营养性酮症可改善极长链酰基辅酶A脱氢酶缺乏症患者的运动代谢。

Bleeker, Jeannette C; Visser, Gepke; Clarke, Kieran; Ferdinandusse, Sacha; de Haan, Ferdinand H; Houtkooper, Riekelt H; IJlst, Lodewijk; Kok, Irene L; Langeveld, Mirjam; van der Pol, W Ludo; de Sain-van der Velden, Monique G M; Sibeijn-Kuiper, Anita; Takken, Tim; Wanders, Ronald J A; van Weeghel, Michel; Wijburg, Frits A; van der Woude, Luc H; Wüst, Rob C I; Cox, Pete J; Jeneson, Jeroen A L