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

PEX39 facilitates the peroxisomal import of PTS2-containing proteins.

PEX39 促进含 PTS2 蛋白进入过氧化物酶体

Chen Walter W, Rodrigues Tony A, Wendscheck Daniel, Pedrosa Ana G, Yang Chendong, Francisco Tânia, Möcklinghoff Till, Zografakis Alexandros, Nunes-Silva Bernardo, Avraham Reut E, Silva Ana R, Ferreira Maria J, Das Hirak, Koster Janet, Neuwirth Simone, Bender Julian, Oeljeklaus Silke, Sondhi Varun, Gatsogiannis Christos, Schuldiner Maya, Zalckvar Einat, Hofmann Kay, Waterham Hans R, DeBerardinis Ralph J, Azevedo Jorge E, Warscheid Bettina

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

基于成像流式细胞术的细胞筛查阐明了具有意义未明变异的个体的病理生理学

Muffels, Irena Josephina Johanna; Waterham, Hans R; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J; Van der Vinne, Celine; Roifman, Chaim M; Gassen, Koen L I; Rehmann, Holger; Van Haaften-Visser, Desiree Y; Nieuwenhuis, Edward S S; Jackson, Stephen P; Fuchs, Sabine A; Wijk, Femke; van Hasselt, Peter

Menaquinone-specific turnover by Mycobacterium tuberculosis cytochrome bd is redox regulated by the Q-loop disulfide bond

结核分枝杆菌细胞色素bd对甲萘醌的特异性周转受Q环二硫键的氧化还原调控。

van der Velden, Tijn T; Kayastha, Kanwal; Waterham, Caspar Y J; Brünle, Steffen; Jeuken, Lars J C

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

视网膜回旋萎缩的分子和细胞机制:为什么视网膜首先受到影响?

Buijs, Mark J N; Balfoort, Berith M; Brands, Marion M; Ten Asbroek, Anneloor L M A; Boon, Camiel J F; Diederen, Roselie M H; Timmer, Corrie; Wagenmakers, Margreet A E M; Waterham, Hans R; Wanders, Ronald J A; Houtkooper, Riekelt H; van Karnebeek, Clara D; Bergen, Arthur A

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

荷兰遗传代谢疾病转化知识议程的发展

Hieltjes, I J; van der Lee, J H; Groenendijk, M C; van Haaften, G; van Hasselt, P M; Lunsing, R J; van Prooijen, G J J; de Ruiter, E M; van Spronsen, F J; Verhoeven-Duif, N M; de Vreugd, A; Wagenmakers, M; Zweers, H; Dekker, H; Waterham, H R; van Karnebeek, C D; Wanders, R J A; Wevers, R A

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype

缺乏甲羟戊酸激酶的 THP-1 细胞表现出疾病特征性的促炎表型

Frouwkje A Politiek, Marjolein Turkenburg, Rob Ofman, Hans R Waterham

Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients

成像流式细胞术揭示线粒体疾病患者中不同的线粒体表型

Irena J J Muffels ,Richard Rodenburg ,Hanneke L D Willemen ,Désirée van Haaften-Visser ,Hans Waterham ,Niels Eijkelkamp ,Sabine A Fuchs ,Peter M van Hasselt

Overexpression of PEX14 results in mistargeting to mitochondria, accompanied by organelle fragmentation and clustering in human embryonic kidney cells

PEX14 过度表达导致错误定位到线粒体,并伴有人类胚胎肾细胞中的细胞器碎裂和聚集

Renate L M Jansen, Rinse de Boer, Eline M F de Lange, Janet Koster, Rifka Vlijm, Hans R Waterham, Ida J van der Klei

Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome

鉴定 FDA 批准的可增加高 IgD 综合征中甲羟戊酸激酶的药物

Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham