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

A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusions

GOLGA8A基因的重复扩增是伴有泛素阳性包涵体的非典型额颞叶变性的主要风险因素。

De Coster, Wouter; Van den Broeck, Marleen; Baker, Matt; Ghayal, Nikhil B; Wynants, Sarah; Batzler, Anthony; Pottier, Cyril; Alidadiani, Sara; Küçükali, Fahri; Jenkins, Gregory D; Policarpo, Rafaela; van Blitterswijk, Marka; DeJesus-Hernandez, Mariely; Soto-Beasley, Alexandra I; Faura, Júlia; Coopman, Elise; Hutten, Saskia; Mol, Merel O; Wallon, David; Sieben, Anne; Finger, Elizabeth C; Murray, Melissa E; Forrest, Shelley L; Tartaglia, Maria C; Troakes, Claire; van Rooij, Jeroen G J; Nguyen, Aivi T; Reichard, R Ross; Woodman, Natalie L; Nana, Alissa L; Weintraub, Sandra; Gefen, Tamar; De Vil, Bart; Bodi, Istvan; Lopez, Oscar L; Boluda, Susana; Belliard, Serge; Lebert, Florence; Marguet, Florent; Mao, Qinwen; Mesulam, Marsel M; Boxer, Adam L; Vandenbulcke, Mathieu; Suh, EunRan; Schaeverbeke, Jolien; Lambert, Jean-Charles; Scholz, Sonja W; Dalgard, Clifton L; Traynor, Bryan J; Gibbs, Raphael J; Schellenberg, Gerard D; Dormann, Dorothee; Joris, Geert; De Pooter, Tim; De Rijk, Peter; D'Hert, Svenn; Van Dongen, Jasper; van der Zee, Julie; Strazisar, Mojca; Gearing, Marla; Kukar, Thomas; Flanagan, Margaret; Engelborghs, Sebastiaan; Ghetti, Bernardino; Newell, Kathy L; King, Andrew; Roeber, Sigrun; Rosen, Howard J; Spina, Salvatore; Cras, Patrick; Ertekin-Taner, Nilüfer; Wszolek, Zbigniew K; Uitti, Ryan J; Cheshire, William P; Singer, Wolfgang; Herms, Jochen; Josephs, Keith A; Whitwell, Jennifer L; Petersen, Ronald C; Pasquier, Florence; Nicolas, Gaël; Castellani, Rudolph; Glass, Jonathan; Miller, Bruce L; Kovacs, Gabor G; Rissman, Robert A; Hiniker, Annie; Deramecourt, Vincent; Ang, Lee-Cyn; Lee-Way, Jin; Van Deerlin, Vivianna M; Dugger, Brittany N; Thal, Dietmar R; Grinberg, Lea T; Cruchaga, Carlos; Arzberger, Thomas; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Lee, Edward B; Haggarty, Stephen J; Ansorge, Olaf; Husain, Masud; Halliday, Glenda M; Al-Sarraj, Safa; Ross, Owen A; Sleegers, Kristel; Vandenberghe, Rik; Boeve, Bradley F; Graff-Radford, Neill R; Kofler, Julia; White, Charles L 3rd; Lashley, Tammaryn; Neumann, Manuela; Biernacka, Joanna M; Seeley, William W; Seelaar, Harro; van Swieten, John C; Rohrer, Jonathan D; Dickson, Dennis W; Mackenzie, Ian R A; Rademakers, Rosa

Transplantation of Human IPSC-derived Microglia Ameliorates Neuropathology and Circuit Dysfunction in Progranulin-Deficient Mice.

移植人 IPSC 衍生的小胶质细胞可改善缺乏前粒蛋白小鼠的神经病理学和回路功能障碍。

Davtyan Hayk, Naguib Sarah, Voskobiynyk Yuliya, Chadarevian Jean Paul, Capocchi Joia K, Giacchino Jeannie L, Eskandari-Sedighi Ghazaleh, DeNittis Vivianna, Ford Jeremy B, Agababian Ani, Nguyen Jasmine, Chadarevian Alina L, Sutherland Madison S, Shabestari Sepideh Kiani, Nana Alissa L, Zhang Jiasheng, Spina Salvatore, Wong Man Ying, Grinberg Lea T, Seeley William W, Huang Eric, Clelland Claire D, Gong Shiaoching, Fan Li, Paz Jeanne T, Blurton-Jones Mathew, Gan Li

Transplantation of Human IPSC-derived Microglia Ameliorates Neuropathology and Circuit Dysfunction in Progranulin-Deficient Mice.

移植人 IPSC 衍生的小胶质细胞可改善缺乏前粒蛋白小鼠的神经病理学和回路功能障碍。

Davtyan Hayk, Naguib Sarah, Voskobiynyk Yuliya, Chadarevian Jean Paul, Capocchi Joia K, Giacchino Jeannie L, Eskandari-Sedighi Ghazaleh, DeNittis Vivianna, Ford Jeremy B, Agababian Ani, Nguyen Jasmine, Chadarevian Alina L, Sutherland Madison S, Shabestari Sepideh Kiani, Nana Alissa L, Zhang Jiasheng, Spina Salvatore, Wong Man Ying, Grinberg Lea T, Seeley William W, Huang Eric, Clelland Claire D, Gong Shiaoching, Fan Li, Paz Jeanne T, Blurton-Jones Mathew, Gan Li

β-Amyloid induces microglial expression of GPC4 and APOE leading to increased neuronal tau pathology and toxicity.

β-淀粉样蛋白诱导小胶质细胞表达GPC4和APOE,导致神经元tau蛋白病理和毒性增加

Holmes Brandon B, Weigel Thaddeus K, Chung Jesseca M, Kaufman Sarah K, Apresa Brandon I, Byrnes James R, Kumru Kaan S, Vaquer-Alicea Jaime, Gupta Ankit, Rose Indigo V L, Zhang Yun, Nana Alissa L, Alter Dina, Grinberg Lea T, Spina Salvatore, Leung Kevin K, Miller Bruce L, Condello Carlo, Kampmann Martin, Seeley William W, Coutinho-Budd Jaeda C, Wells James A

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

通过全基因组测序解析FTLD-TDP病理亚型的不同遗传风险因素

Pottier, Cyril; Küçükali, Fahri; Baker, Matt; Batzler, Anthony; Jenkins, Gregory D; van Blitterswijk, Marka; Vicente, Cristina T; De Coster, Wouter; Wynants, Sarah; Van de Walle, Pieter; Ross, Owen A; Murray, Melissa E; Faura, Júlia; Haggarty, Stephen J; van Rooij, Jeroen Gj; Mol, Merel O; Hsiung, Ging-Yuek R; Graff, Caroline; Öijerstedt, Linn; Neumann, Manuela; Asmann, Yan; McDonnell, Shannon K; Baheti, Saurabh; Josephs, Keith A; Whitwell, Jennifer L; Bieniek, Kevin F; Forsberg, Leah; Heuer, Hilary; Lago, Argentina Lario; Geier, Ethan G; Yokoyama, Jennifer S; Oddi, Alexis P; Flanagan, Margaret; Mao, Qinwen; Hodges, John R; Kwok, John B; Domoto-Reilly, Kimiko; Synofzik, Matthis; Wilke, Carlo; Onyike, Chiadi; Dickerson, Bradford C; Evers, Bret M; Dugger, Brittany N; Munoz, David G; Keith, Julia; Zinman, Lorne; Rogaeva, Ekaterina; Suh, EunRan; Gefen, Tamar; Geula, Changiz; Weintraub, Sandra; Diehl-Schmid, Janine; Farlow, Martin R; Edbauer, Dieter; Woodruff, Bryan K; Caselli, Richard J; Donker Kaat, Laura L; Huey, Edward D; Reiman, Eric M; Mead, Simon; King, Andrew; Roeber, Sigrun; Nana, Alissa L; Ertekin-Taner, Nilufer; Knopman, David S; Petersen, Ronald C; Petrucelli, Leonard; Uitti, Ryan J; Wszolek, Zbigniew K; Ramos, Eliana Marisa; Grinberg, Lea T; Tempini, Maria Luisa Gorno; Rosen, Howard J; Spina, Salvatore; Piguet, Olivier; Grossman, Murray; Trojanowski, John Q; Keene, C Dirk; Jin, Lee-Way; Prudlo, Johannes; Geschwind, Daniel H; Rissman, Robert A; Cruchaga, Carlos; Ghetti, Bernardino; Halliday, Glenda M; Beach, Thomas G; Serrano, Geidy E; Arzberger, Thomas; Herms, Jochen; Boxer, Adam L; Honig, Lawrence S; Vonsattel, Jean P; Lopez, Oscar L; Kofler, Julia; White, Charles L 3rd; Gearing, Marla; Glass, Jonathan; Rohrer, Jonathan D; Irwin, David J; Lee, Edward B; Van Deerlin, Vivianna; Castellani, Rudolph; Mesulam, Marsel M; Tartaglia, Maria C; Finger, Elizabeth C; Troakes, Claire; Al-Sarraj, Safa; Dalgard, Clifton L; Miller, Bruce L; Seelaar, Harro; Graff-Radford, Neill R; Boeve, Bradley F; Mackenzie, Ian Ra; van Swieten, John C; Seeley, William W; Sleegers, Kristel; Dickson, Dennis W; Biernacka, Joanna M; Rademakers, Rosa

Cell autonomous microglia defects in a stem cell model of frontotemporal dementia tau

额颞叶痴呆干细胞模型中细胞自主性小胶质细胞缺陷

Abhirami K Iyer ,Lisa Vermunt ,Farzaneh S Mirfakhar ,Miguel Minaya ,Mariana Acquarone ,Rama Krishna Koppisetti ,Arun Renganathan ,Shih-Feng You ,Emma P Danhash ,Kylie J Schache ,Anthony Verbeck ,Grant Galasso ,Scott M Lee ,Guangming Huang ,Katherine J Miller ,Jacob Marsh ,Alissa L Nana ,Salvatore Spina ,William W Seeley ,Lea T Grinberg ,Sally Temple ,Charlotte E Teunissen ,Chihiro Sato ,Celeste M Karch

Brain transcriptomics highlight abundant gene expression and splicing alterations in non-neuronal cells in aFTLD-U

脑转录组学研究揭示了aFTLD-U患者非神经元细胞中大量基因表达和剪接改变。

Alidadiani, Sara; Faura, Júlia; Wynants, Sarah; Peeters, Nele; Van den Broeck, Marleen; De Witte, Linus; Policarpo, Rafaela; Cheung, Simon; Pottier, Cyril; Ghayal, Nikhil B; Mol, Merel O; van Blitterswijk, Marka; Udine, Evan; DeJesus-Hernandez, Mariely; Baker, Matthew; Finch, NiCole A; Asmann, Yan W; van Rooij, Jeroen G J; Nguyen, Aivi T; Ross Reichard, R; Nana, Alissa L; Lopez, Oscar L; Boxer, Adam L; Rosen, Howard J; Spina, Salvatore; Herms, Jochen; Josephs, Keith A; Petersen, Ronald C; Rissman, Robert A; Hiniker, Annie; Ang, Lee-Cyn; Grinberg, Lea T; Halliday, Glenda M; Boeve, Bradley F; Graff-Radford, Neill R; Seelaar, Harro; Neumann, Manuela; Kofler, Julia; White, Charles L 3rd; Seeley, William W; van Swieten, John C; Dickson, Dennis W; Mackenzie, Ian R A; De Coster, Wouter; Rademakers, Rosa

Reduction of sphingomyelinase activity associated with progranulin deficiency and frontotemporal dementia.

鞘磷脂酶活性降低与前粒蛋白缺乏和额颞叶痴呆有关

Boyle Nicholas R, Fox Stephanie N, Tadepalli Aniketh S, Seyfried Nicholas T, Kukar Thomas, Ramos Eliana M, Nana Alissa L, Spina Salvatore, Grinberg Lea T, Miller Bruce L, Seeley William W, Arrant Andrew E, Roberson Erik D

Opposing role of phagocytic receptors MERTK and AXL in Progranulin deficient FTD.

吞噬受体 MERTK 和 AXL 在前粒蛋白缺乏型 FTD 中的相反作用

Clelland Claire Dudley, Fan Li, Saloner Rowan, Etchegaray Jon Iker, Altobelli Chad Richard, Salomonsson Sally, Maltos Alisha M, Sachdev Aradhana, Zhu Jingjie, Lee Se-In, Li Yaqiao, Zhou Yungui, Le David, Wang Chao, Carling Gillian, Kodama Lay, Sayed Faten, Perez-Bermejo Jaun A, Geier Ethan G, Yokoyama Jennifer S, Rosen Howie, Nana Alissa L, Spina Salvatore, Grinberg Lea T, Seeley William W, Elahi Fanny, Boxer Adam L, Arkin Michelle R, Gan Li

β-Amyloid Induces Microglial Expression of GPC4 and APOE Leading to Increased Neuronal Tau Pathology and Toxicity.

β-淀粉样蛋白诱导小胶质细胞表达GPC4和APOE,导致神经元Tau病理和毒性增加

Holmes Brandon B, Weigel Thaddeus K, Chung Jesseca M, Kaufman Sarah K, Apresa Brandon I, Byrnes James R, Kumru Kaan S, Vaquer-Alicea Jaime, Gupta Ankit, Rose Indigo V L, Zhang Yun, Nana Alissa L, Alter Dina, Grinberg Lea T, Spina Salvatore, Leung Kevin K, Condello Carlo, Kampmann Martin, Seeley William W, Coutinho-Budd Jaeda C, Wells James A