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

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

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

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

磷酸羟戊酸激酶缺乏症扩大了系统性自身炎症性疾病的遗传谱。

Berner, Jakob; van de Wetering, Cheryl; Jimenez Heredia, Raul; Rashkova, Christina; Ferdinandusse, Sacha; Koster, Janet; Weiss, Johannes G; Frohne, Alexandra; Giuliani, Sarah; Waterham, Hans R; Castanon, Irinka; Brunner, Jürgen; Boztug, Kaan

Peroxisomal NAD(H) Homeostasis in the Yeast Debaryomyces hansenii Depends on Two Redox Shuttles and the NAD(+) Carrier, Pmp47

酵母汉逊德巴利酵母(Debaryomyces hansenii)过氧化物酶体NAD(H)稳态依赖于两个氧化还原穿梭体和NAD(+)载体Pmp47。

Turkolmez, Selva; Chornyi, Serhii; Alhajouj, Sondos; IJlst, Lodewijk; Waterham, Hans R; Mitchell, Phil J; Hettema, Ewald H; van Roermund, Carlo W T

Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism

ACBD4 和 ACBD5 在过氧化物酶体-内质网相互作用和脂质代谢中的不同作用

Costello, Joseph L; Koster, Janet; Silva, Beatriz S C; Worthy, Harley L; Schrader, Tina A; Hacker, Christian; Passmore, Josiah; Kuypers, Frans A; Waterham, Hans R; Schrader, Michael

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

“阴性”外显子组测序结果后的后续步骤:遗传诊断、局限性、挑战及新兴多组学技术的综述

Wortmann, Saskia B; Oud, Machteld M; Alders, Mariëlle; Coene, Karlien L M; van der Crabben, Saskia N; Feichtinger, René G; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A; Ockeloen, Charlotte W; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R; Wevers, Ron A; van de Warrenburg, Bart P C; Willemsen, Michel A A P; Wolf, Nicole I; Vissers, Lisenka E L M; van Karnebeek, Clara D M

A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

一个轻度钠依赖性多维生素转运蛋白(SMVT)缺乏症病例,说明了治疗反应在变异分类中的重要性。

Hauth, Ingeborg; Waterham, Hans R; Wanders, Ronald J A; van der Crabben, Saskia N; van Karnebeek, Clara D M

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