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

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

关于“CERT1突变通过破坏鞘脂稳态扰乱人类发育”一文的更正

Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; Kunnathully, Vidya; Moeller, Brandon E; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; van Bon, Bregje W; Pfundt, Rolph; Willemsen, Marjolein H; Schieving, Jolanda H; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R; Beier, Christoph P; Larsen, Martin J; Valenzuela, Irene; Fernández-Álvarez, Paula; Xiong, Shiyi; Śmigiel, Robert; López-González, Vanesa; Armengol, Lluís; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Tran Mau-Them, Frederic; Maddocks, Alexis Br; Bain, Jennifer M; Bhat, Musadiq A; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L; Friez, Michael J; Richardson, Ellen B; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Gupta, Yask; Lim, Tze Y; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E; Jakšić, Ana Marija; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Impact of Nutrition on Sphingolipid-Regulated Physiology: A Review

营养对鞘脂调节生理的影响:综述

Voß, Jonas; Hornemann, Thorsten; Belgardt, Bengt-Frederik

Characterization of lipidome alterations in a standardized porcine model with multiple trauma and hemorrhagic shock: Are they driven by hepatic injury?

在标准化的猪多发性创伤和出血性休克模型中对脂质组变化进行表征:这些变化是由肝损伤驱动的吗?

Kalbas, Yannik; Klingebiel, Felix K L; Kumabe, Yohei; Halvachizadeh, Sascha; Teuben, Michel P J; Hülsmeier, Andreas J; Hübner, Christian T; Ricklin, John; Hax, Jakob; Märsmann, Sonja; Okoniewski, Michal J; Weisskopf, Miriam; Cesarovic, Nikola; Hildebrand, Frank; Hornemann, Thorsten; Pfeifer, Roman; Cinelli, Paolo; Pape, Hans-Christoph

Blood 1-Deoxysphingolipid Levels Are Associated With Epidermal Denervation in Small Fiber Neuropathy

血液中1-脱氧鞘脂水平与小纤维神经病变中的表皮去神经支配相关

Kreß, Luisa; Meyer Zu Altenschildesche, Caren; Egenolf, Nadine; Sommer, Claudia; Hornemann, Thorsten; Üçeyler, Nurcan

Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice

Sptlc1 外显子 2 缺失杂合子小鼠缺乏运动缺陷和 ALS 样神经病理学改变

Pant, Devesh C; Lone, Museer A; Parameswaran, Janani; Ma, Fuying; Dutta, Prisha; Wang, Zitong; Park, Jaekeun; Verma, Sumit; Hornemann, Thorsten; Jiang, Jie

High-Density Lipoprotein Lipid and Protein Cargo and Cholesterol Efflux Capacity Before and After Bariatric Surgery

减肥手术前后高密度脂蛋白脂质和蛋白质运输以及胆固醇外流能力

Zahid, Sohail; Schlamp, Florencia; Gildea, Michael A; Lin, Bing-Xue; Chaloemtoem, Ariya; Falis, Marcin; Parikh, Manish; Fisher, Edward A; Hornemann, Thorsten; Vaisar, Tomas; Heffron, Sean P

Concordant inter-laboratory derived concentrations of ceramides in human plasma reference materials via authentic standards

通过标准品测定人血浆参考物质中神经酰胺的实验室间一致性浓度

Torta, Federico; Hoffmann, Nils; Burla, Bo; Alecu, Irina; Arita, Makoto; Bamba, Takeshi; Bennett, Steffany A L; Bertrand-Michel, Justine; Brügger, Britta; Cala, Mónica P; Camacho-Muñoz, Dolores; Checa, Antonio; Chen, Michael; Chocholoušková, Michaela; Cinel, Michelle; Chu-Van, Emeline; Colsch, Benoit; Coman, Cristina; Connell, Lisa; Sousa, Bebiana C; Dickens, Alex M; Fedorova, Maria; Eiríksson, Finnur Freyr; Gallart-Ayala, Hector; Ghorasaini, Mohan; Giera, Martin; Guan, Xue Li; Haid, Mark; Hankemeier, Thomas; Harms, Amy; Höring, Marcus; Holčapek, Michal; Hornemann, Thorsten; Hu, Chunxiu; Hülsmeier, Andreas J; Huynh, Kevin; Jones, Christina M; Ivanisevic, Julijana; Izumi, Yoshihiro; Köfeler, Harald C; Lam, Sin Man; Lange, Mike; Lee, Jong Cheol; Liebisch, Gerhard; Lippa, Katrice; Lopez-Clavijo, Andrea F; Manzi, Malena; Martinefski, Manuela R; Math, Raviswamy G H; Mayor, Satyajit; Meikle, Peter J; Monge, María Eugenia; Moon, Myeong Hee; Muralidharan, Sneha; Nicolaou, Anna; Nguyen-Tran, Thao; O'Donnell, Valerie B; Orešič, Matej; Ramanathan, Arvind; Riols, Fabien; Saigusa, Daisuke; Schock, Tracey B; Schwartz-Zimmermann, Heidi; Shui, Guanghou; Singh, Madhulika; Takahashi, Masatomo; Thorsteinsdóttir, Margrét; Tomiyasu, Noriyuki; Tournadre, Anthony; Tsugawa, Hiroshi; Tyrrell, Victoria J; van der Gugten, Grace; Wakelam, Michael O; Wheelock, Craig E; Wolrab, Denise; Xu, Guowang; Xu, Tianrun; Bowden, John A; Ekroos, Kim; Ahrends, Robert; Wenk, Markus R

A new type of blood-brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations.

一种新型的血脑屏障氨基酸病是与 SLC1A4 突变相关的代谢性小头畸形的根本原因

Odeh Maali, Sajrawi Clara, Majcher Adam, Zubedat Salman, Shaulov Lihi, Radzishevsky Alex, Mizrahi Liron, Chung Wendy K, Avital Avi, Hornemann Thorsten, Liebl Daniel J, Radzishevsky Inna, Wolosker Herman

Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

复发性新生SPTLC2变异通过鞘脂合成过多导致儿童期发病的肌萎缩侧索硬化症(ALS)。

Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C Jr; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G

Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

SPTLC2基因中反复出现的新生功能获得性突变证实鞘脂生成失调是导致青少年肌萎缩侧索硬化症的原因。

Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazlı Başak, A; Hornemann, Thorsten; Zuchner, Stephan