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

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome

距离研发出安格曼综合征的疾病改善疗法又近了一步

Judson, Matthew C; de Almeida, Luis Pereira; Burdine, Rebecca D; Chamberlain, Stormy J; Deverman, Benjamin E; Distel, Ben; Ehlers, Michael D; Jalazo, Elizabeth; Kushner, Steven A; Nespeca, Mark; Sanders, Stephan J; Scheffner, Martin; Yi, Jason J; Zylka, Mark J; Elgersma, Ype; Philpot, Benjamin D

A xenotransplantation model for reactivation of paternal UBE3A using human-specific antisense oligonucleotides

利用人源特异性反义寡核苷酸激活父系UBE3A的异种移植模型

Smeenk, Hilde; Lendemeijer, Bas; Buurma, Mirle G; Forgione, Michell A; Slump, Denise E; Monshouwer, Roos A; Wallaard, Ilse; Mientjes, Edwin J; Hoogendijk, Witte J G; Elgersma, Ype; de Vrij, Femke M S; Kushner, Steven A

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.

UBE3A 通过靶向 ABCA1 进行蛋白酶体降解,促进泡沫细胞形成并抑制髓鞘再生

Loix Melanie, Vanherle Sam, Bolkaerts Laura, Verberk Sanne G S, Punt Mattijs, Wouters Flore, Moonen Brecht, Verhagen Rob, Van Wouw Suzanne A E, Jongejan Aldo, Distel Ben, Elgersma Ype, Haidar Mansour, Zelcer Noam, Hendriks Jerome J A, Bogie Jeroen F J

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

UBE3A 的恢复可以恢复 Angelman 综合征小鼠模型(印记缺陷)的行为和蛋白质组

Milazzo Claudia, Narayanan Ramanathan, Badillo Solveig, Wang Silvia, Almand Rosaisela, Monshouwer Roos, Tzouros Manuel, Golling Sabrina, Mientjes Edwin, Chamberlain Stormy, Kremer Thomas, Elgersma Ype

Forb diversity globally is harmed by nutrient enrichment but can be rescued by large mammalian herbivory

全球范围内,营养富集损害了草本植物的多样性,但大型哺乳动物的食草行为可以挽救这种多样性。

Nelson, Rebecca A; Sullivan, Lauren L; Hersch-Green, Erika I; Seabloom, Eric W; Borer, Elizabeth T; Tognetti, Pedro M; Adler, Peter B; Biederman, Lori; Bugalho, Miguel N; Caldeira, Maria C; Cancela, Juan P; Carvalheiro, Luísa G; Catford, Jane A; Dickman, Chris R; Dolezal, Aleksandra J; Donohue, Ian; Ebeling, Anne; Eisenhauer, Nico; Elgersma, Kenneth J; Eskelinen, Anu; Estrada, Catalina; Garbowski, Magda; Graff, Pamela; Gruner, Daniel S; Hagenah, Nicole; Haider, Sylvia; Harpole, W Stanley; Hautier, Yann; Jentsch, Anke; Johanson, Nicolina; Koerner, Sally E; Lannes, Lucíola S; MacDougall, Andrew S; Martinson, Holly; Morgan, John W; Olde Venterink, Harry; Orr, Devyn; Osborne, Brooke B; Peri, Pablo L; Power, Sally A; Raynaud, Xavier; Risch, Anita C; Shrestha, Mani; Smith, Nicholas G; Stevens, Carly J; Veen, G F Ciska; Virtanen, Risto; Wardle, Glenda M; Wolf, Amelia A; Young, Alyssa L; Harrison, Susan P

Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial

拉莫三嗪治疗1型神经纤维瘤病相关认知障碍:一项II期随机安慰剂对照试验

Ottenhoff, Myrthe J; Mous, Sabine E; Castricum, Jesminne; Rietman, André B; Oostenbrink, Rianne; van der Vaart, Thijs; Tulen, Joke H M; Parra, Alba; Ramos, Federico J; Legius, Eric; Moll, Henriette A; Elgersma, Ype; de Wit, Marie-Claire Y

Multiscale investigation of collagen structure in human skin and gel matrices using polarization resolved second harmonic generation microscopy.

利用偏振分辨二次谐波显微镜对人体皮肤和凝胶基质中的胶原蛋白结构进行多尺度研究

Zhou Mengyao, Gomes Madalena Pinto, Elgersma Anouk, Korkmaz H Ibrahim, Boekema Bouke K H L, Groot Marie Louise

Comparison of dermal and eschar fibroblasts in full skin equivalents

全皮肤等效物中真皮和焦痂成纤维细胞的比较

Gizem Coşar Kutluoğlu, Marcel Vlig, Anouk Elgersma, Bouke K H L Boekema, Willeke F Daamen, Claudia Doberenz, Dominique Manikowski

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.

人类 UBE3A 异构体 3 的定位对 p.Met21 位点的氨基酸替换高度敏感

van Esbroeck Annelot C M, Verhagen Rob F M, Biagioni Martina, Fossati Matteo, Distel Ben, Elgersma Ype