日期:
2020 年 — 2026 年
2020
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2026
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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

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

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

Metabolism: getting things right!

新陈代谢:一切正常!

Auranen, Mari; Toppila, Jussi; Suriyanarayanan, Saranya; Lone, Museer A; Paetau, Anders; Tyynismaa, Henna; Hornemann, Thorsten; Ylikallio, Emil; Teale, William; Klimmeck, Daniel

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

CERT1基因突变通过破坏鞘脂稳态来扰乱人类发育。

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 Marjia; McCabe, Brian D; De Los Rios, Paolo; Hornemann, Thorsten; D'Angelo, Giovanni; Gennarino, Vincenzo A

Editorial: Genetic disorders and rare diseases: in vitro models for preclinical pharmacological studies and translation

社论:遗传性疾病和罕见病:用于临床前药理学研究和转化的体外模型

Hassan, Shabir; Lone, Museer A

Yeast Integral Membrane Proteins Apq12, Brl1, and Brr6 Form a Complex Important for Regulation of Membrane Homeostasis and Nuclear Pore Complex Biogenesis.

酵母整合膜蛋白 Apq12、Brl1 和 Brr6 形成一个复合物,该复合物对膜稳态的调节和核孔复合物的生物发生至关重要

Lone Museer A, Atkinson Aaron E, Hodge Christine A, Cottier Stéphanie, Martínez-Montañés Fernando, Maithel Shelley, Mène-Saffrané Laurent, Cole Charles N, Schneiter Roger

The natural diyne-furan fatty acid EV-086 is an inhibitor of fungal delta-9 fatty acid desaturation with efficacy in a model of skin dermatophytosis.

天然二炔呋喃脂肪酸 EV-086 是一种真菌 delta-9 脂肪酸去饱和抑制剂,在皮肤真菌病模型中具有疗效

Knechtle Philipp, Diefenbacher Melanie, Greve Katrine B V, Brianza Federico, Folly Christophe, Heider Harald, Lone Museer A, Long Lisa, Meyer Jean-Philippe, Roussel Patrick, Ghannoum Mahmoud A, Schneiter Roger, Sorensen Alexandra S

CaMtw1, a member of the evolutionarily conserved Mis12 kinetochore protein family, is required for efficient inner kinetochore assembly in the pathogenic yeast Candida albicans

CaMtw1 是进化上保守的 Mis12 着丝粒蛋白家族的成员,是致病酵母白色念珠菌中有效组装内着丝粒所必需的。

Roy, Babhrubahan; Burrack, Laura S; Lone, Museer A; Berman, Judith; Sanyal, Kaustuv