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

Pathogenic PPP2R5D variants disrupt neuronal development and neurite outgrowth in patient-derived neurons that are reversed by allele-specific knockdown

致病性 PPP2R5D 变异会破坏患者来源神经元的发育和神经突生长，而等位基因特异性敲低可以逆转这种破坏作用。

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100450
Young, Randee E; Zuccaro, Michael V; LeDuc, Charles A; Germain, Noelle D; Kim, Tae Hyun; Sarmiere, Patrick; Chung, Wendy K
发育与干细胞
PPP2R5D
神经科学
发表日期：2025
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Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy

针对巨头畸形和自闭症谱系障碍/行为异常的临床遗传学方法：PTEN 和 PPP2R5D 变异是患者导向诊断策略中最常见的基因突变

期刊:Genes
影响因子:2.8
doi:10.3390/genes16040469
L'Erario, Federica Francesca; Gazzellone, Annalisa; Contaldo, Ilaria; Veredice, Chiara; Carapelle, Marina; Renzi, Anna Gloria; Modafferi, Clarissa; Palucci, Marta; D'Ambrosio, Pino; Sonnini, Elena; Loberti, Lorenzo; Panfili, Arianna; Lucci Cordisco, Emanuela; Chiurazzi, Pietro; Trevisan, Valentina; Leoni, Chiara; Zampino, Giuseppe; Pomponi, Maria Grazia; Orteschi, Daniela; Zollino, Marcella; Marangi, Giuseppe
自闭症
PTEN
PPP2R5D
神经科学
发表日期：2025
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Jordan syndrome due to PPP2R5D gene mutation: a report of two pediatric cases and literature review

由 PPP2R5D 基因突变引起的约旦综合征：两例儿童病例报告及文献综述

期刊:Translational Pediatrics
影响因子:1.7
doi:10.21037/tp-2025-483
Huang, Yiguo; Feng, Biyun; Gao, Shiyang; Wang, Libo; Xu, Xueqiong; Wen, Tian; Yao, Ru'en; Yu, Tingting; Bei, Fei; Wang, Xiumin
PPP2R5D
发表日期：2025
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Characterizing ambulatory function in children with PPP2R5D-related neurodevelopmental disorder

对患有 PPP2R5D 相关神经发育障碍的儿童进行步行功能特征分析

期刊:Gait & Posture
影响因子:2.4
doi:10.1016/j.gaitpost.2024.03.012
Zreibe, Kyle; Kanner, Cara H; Uher, David; Beard, Gabriella; Patterson, Madison; Harris, Matthew; Doerger, Jerome; Calamia, Sean; Chung, Wendy K; Montes, Jacqueline
发育与干细胞
PPP2R5D
神经科学
发表日期：2024
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PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas: A Novel Phenotypic Trait?

PPP2R5D相关神经发育障碍和多发性血管瘤：一种新的表型特征？

期刊:Pediatric Reports
影响因子:1.4
doi:10.3390/pediatric16040101
Comisi, Francesco; Soddu, Consolata; Lai, Francesco; Marica, Monica; Lorrai, Michela; Mancuso, Giancarlo; Giglio, Sabrina; Savasta, Salvatore
发育与干细胞
PPP2R5D
神经科学
发表日期：2024
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Quantum-based modeling implies that bidentate Arg(89)-substrate binding enhances serine/threonine protein phosphatase-2A(PPP2R5D/PPP2R1A/PPP2CA)-mediated dephosphorylation

基于量子力学的建模表明，双齿Arg(89)底物结合增强了丝氨酸/苏氨酸蛋白磷酸酶-2A(PPP2R5D/PPP2R1A/PPP2CA)介导的去磷酸化作用。

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2023.1141804
Salter, E Alan; Wierzbicki, Andrzej; Honkanen, Richard E; Swingle, Mark R
信号转导
PPP2R5D
磷酸化
发表日期：2023
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Retracted: A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

撤稿：基因 PPP2R5D 中的一种新型错义变异导致一种罕见的神经发育障碍，并伴有表型增强

期刊:Biomed Research International
影响因子:2.3
doi:10.1155/2023/9781948
International, BioMed Research
发育与干细胞
PPP2R5D
神经科学
发表日期：2023
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A Novel Missense Variant in the Gene PPP2R5D Causes a Rare Neurodevelopmental Disorder with Increased Phenotype

基因 PPP2R5D 中的一种新型错义变异导致一种罕见的神经发育障碍，并伴有表型加重

期刊:Biomed Research International
影响因子:2.3
doi:10.1155/2021/6661860
Yan, Lulu; Shen, Ru; Cao, Zongfu; Han, Chunxiao; Zhang, Yuxin; Liu, Yingwen; Yang, Xiangchun; Xie, Min; Li, Haibo
发育与干细胞
PPP2R5D
神经科学
发表日期：2021
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Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

早发性帕金森病是 PPP2R5D p.E200K 突变的一种表现

期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.25863
Kim, Christine Y; Wirth, Thomas; Hubsch, Cécile; Németh, Andrea H; Okur, Volkan; Anheim, Mathieu; Drouot, Nathalie; Tranchant, Christine; Rudolf, Gabrielle; Chelly, Jamel; Tatton-Brown, Katrina; Blauwendraat, Cornelis; Vonsattel, Jean Paul G; Cortes, Etty; Alcalay, Roy N; Chung, Wendy K
PPP2R5D
帕金森
神经科学
发表日期：2020
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions

编码辅助钙通道 β4 亚基的 CACNB4 纯合错义变体会导致严重的神经发育障碍，并损害通道和非通道功能

期刊:PLoS Genetics
影响因子:
doi:10.1371/journal.pgen.1008625
Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J Obermair, Maja Hempel, Bernhard E Flucher, Kerstin Kutsche
神经
IP
WB
Human
PPP2R5D
发表日期：2020
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