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

Gephyrin filaments represent the molecular basis of inhibitory postsynaptic densities.

Gephyrin丝状体是抑制性突触后致密区的分子基础。

Macha Arthur, Liebsch Filip, Bruckisch Emanuel H W, Burdina Nele, von Stülpnagel Imke, Benting Konrad, Gunkel Monika, Behrmann Elmar, Schwarz Guenter

Sulfite oxidase deficiency causes persulfidation loss and hydrogen sulfide release.

亚硫酸盐氧化酶缺乏会导致过硫化损失和硫化氢释放。

Fu Chun-Yu, Kohl Joshua B, Liebsch Filip, D'Andrea Davide, Ditrói Tamás, Ogata Seiryo, Neuser Franziska, Mai Max, Mellis Anna T, Kouroussis Emilia, Morita Masanobu, Gehling Titus, Santamaria-Araujo José Angel, Yeo Sin Yuin, Endepols Heike, Křížková Michaela, Kozich Viktor, Krueger Marcus, Hennermann Julia B, Barayeu Uladzimir, Akaike Takaaki, Nagy Peter, Filipovic Milos, Schwarz Guenter

Phosphoinositide- and Collybistin-Dependent Synaptic Clustering of Gephyrin.

磷脂酰肌醇和胶质蛋白依赖的Gephyrin突触聚集

Burdina Nele, Liebsch Filip, Macha Arthur, Gil Joaquín Lucas Ortuño, Frommelt Pia, Rais Irina, Basler Fabian, Pöpsel Simon, Schwarz Guenter

Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate

环吡喃蝶呤单磷酸治疗A型钼辅因子缺乏症患者可提高生存率

Schwarz, Guenter; Basel, Donald G; Schwahn, Bernd C; Spiegel, Ronen; Wong, Flora Y; Bliss, Robin; Squires, Liza

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency

罗姆人群体中一种常见的MOCS2变异与一种新型的轻度钼辅因子缺乏症相关。

Cho, Sung Kweon; Schwarz, Guenter; Tasic, Velibor; Křížková, Michaela; Krijt, Jakub; Roeper, Juliane; Honzík, Tomáš; Šebesta, Ivan; Kožich, Viktor; Šaligová, Jana; Pavelcova, Katerina; Masinova, Jana; Winkler, Cheryl A; Stiburkova, Blanka

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H(2)S homeostasis

人类极其罕见的硫代谢遗传疾病表现出H₂S稳态的冗余性

Kožich, Viktor; Schwahn, Bernd C; Sokolová, Jitka; Křížková, Michaela; Ditroi, Tamas; Krijt, Jakub; Khalil, Youssef; Křížek, Tomáš; Vaculíková-Fantlová, Tereza; Stibůrková, Blanka; Mills, Philippa; Clayton, Peter; Barvíková, Kristýna; Blessing, Holger; Sykut-Cegielska, Jolanta; Dionisi-Vici, Carlo; Gasperini, Serena; García-Cazorla, Ángeles; Haack, Tobias B; Honzík, Tomáš; Ješina, Pavel; Kuster, Alice; Laugwitz, Lucia; Martinelli, Diego; Porta, Francesco; Santer, René; Schwarz, Guenter; Nagy, Peter

Homeostatic impact of sulfite and hydrogen sulfide on cysteine catabolism

亚硫酸盐和硫化氢对半胱氨酸分解代谢的稳态影响

Kohl, Joshua B; Mellis, Anna-Theresa; Schwarz, Guenter

Sequences Flanking the Gephyrin-Binding Site of GlyRβ Tune Receptor Stabilization at Synapses

GlyRβ 的 Gephyrin 结合位点侧翼序列调节突触处受体的稳定性

Grünewald, Nora; Jan, Audric; Salvatico, Charlotte; Kress, Vanessa; Renner, Marianne; Triller, Antoine; Specht, Christian G; Schwarz, Guenter

Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy

癫痫性脑病患者突变gephyrin蛋白的神经元和代谢功能同时受损

Dejanovic, Borislav; Djémié, Tania; Grünewald, Nora; Suls, Arvid; Kress, Vanessa; Hetsch, Florian; Craiu, Dana; Zemel, Matthew; Gormley, Padhraig; Lal, Dennis; Myers, Candace T; Mefford, Heather C; Palotie, Aarno; Helbig, Ingo; Meier, Jochen C; De Jonghe, Peter; Weckhuysen, Sarah; Schwarz, Guenter

Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

对新生儿因 MOCS2 缺乏症引起的钼辅因子缺乏症进行调查

Edwards, Matthew; Roeper, Juliane; Allgood, Catherine; Chin, Raymond; Santamaria, Jose; Wong, Flora; Schwarz, Guenter; Whitehall, John