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Items: 1 to 20 of 127

1.
Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability
YiQing Lü, Tiffany Cho, Saptaparna Mukherjee, Carmen Florencia Suarez, Nicolas S Gonzalez-Foutel, Ahmad Malik, Sebastien Martinez, Dzana Dervovic, Robin Hyunseo Oh, Ellen Langille, Khalid N Al-Zahrani, Lisa Hoeg, Zhen Yuan Lin, Ricky Tsai, Geraldine Mbamalu, Varda Rotter, Patricia Ashton-Prolla, Jason Moffat, Lucia Beatriz Chemes, Anne-Claude Gingras, Moshe Oren, Daniel Durocher, Daniel Schramek
Mol Syst Biol. 2024 Jun; 20(6): 719–740. Published online 2024 Apr 5. doi: 10.1038/s44320-024-00032-x
PMCID:
PMC11148184
AbstractArticlePDF–8.1M
2.
Dimerization leads to changes in APP (amyloid precursor protein) trafficking mediated by LRP1 and SorLA
Simone Eggert, A. C. Gonzalez, C. Thomas, S. Schilling, S. M. Schwarz, C. Tischer, V. Adam, P. Strecker, V. Schmidt, T. E. Willnow, G. Hermey, C. U. Pietrzik, E. H. Koo, Stefan Kins
Cell Mol Life Sci. 2018 Jan; 75(2): 301–322. Published online 2017 Aug 10. doi: 10.1007/s00018-017-2625-7
PMCID:
PMC11105302
AbstractArticlePDF–6.9M
3.
SorLA restricts TNFα release from microglia to shape a glioma-supportive brain microenvironment
Paulina Kaminska, Peter L Ovesen, Mateusz Jakiel, Tomasz Obrebski, Vanessa Schmidt, Michal Draminski, Aleksandra G Bilska, Magdalena Bieniek, Jasper Anink, Bohdan Paterczyk, Anne Mette Gissel Jensen, Sylwia Piatek, Olav M Andersen, Eleonora Aronica, Thomas E Willnow, Bozena Kaminska, Michal J Dabrowski, Anna R Malik
EMBO Rep. 2024 May; 25(5): 2278–2305. Published online 2024 Mar 18. doi: 10.1038/s44319-024-00117-6
PMCID:
PMC11094098
AbstractArticlePDF–12M
4.
Differential effects of SORL1 deficiency on the endo-lysosomal network in human neurons and microglia
Swati Mishra, Suman Jayadev, Jessica E. Young
Philos Trans R Soc Lond B Biol Sci. April 8, 2024; 379(1899): 20220389. Published online February 19, 2024. doi: 10.1098/rstb.2022.0389
PMCID:
PMC10874699
AbstractArticlePDF–572K
5.
Functional characterization of SORL1 variants in cell-based assays to investigate variant pathogenicity
Elnaz Fazeli, Elham Fazeli, Petr Fojtík, Henne Holstege, Olav M. Andersen
Philos Trans R Soc Lond B Biol Sci. April 8, 2024; 379(1899): 20220377. Published online February 19, 2024. doi: 10.1098/rstb.2022.0377
PMCID:
PMC10874698
AbstractArticlePDF–1.1M
6.
A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting
Elnaz Fazeli, Daniel D. Child, Stephanie A. Bucks, Miki Stovarsky, Gabrielle Edwards, Shannon E. Rose, Chang-En Yu, Caitlin Latimer, Yu Kitago, Thomas Bird, Suman Jayadev, Olav M. Andersen, Jessica E. Young
Acta Neuropathol. 2024; 147(1): 20. Published online 2024 Jan 20. doi: 10.1007/s00401-023-02670-1
PMCID:
PMC10799806
AbstractArticlePDF–5.1M
7.
Potentially Pathogenic SORL1 Mutations Observed in Autosomal-Dominant Cases of Alzheimer’s Disease Do Not Modulate APP Physiopathological Processing
Charlotte Bauer, Eric Duplan, Peter Saint-George-Hyslop, Frédéric Checler
Cells. 2023 Dec; 12(24): 2802. Published online 2023 Dec 8. doi: 10.3390/cells12242802
PMCID:
PMC10742224
AbstractArticlePDF–1.8M
8.
Cell-type-specific regulation of APOE and CLU levels in human neurons by the Alzheimer’s disease risk gene SORL1
Hyo Lee, Aimee J. Aylward, Richard V. Pearse, II, Alexandra M. Lish, Yi-Chen Hsieh, Zachary M. Augur, Courtney R. Benoit, Vicky Chou, Allison Knupp, Cheryl Pan, Srilakshmi Goberdhan, Duc M. Duong, Nicholas T. Seyfried, David A. Bennett, Mariko F. Taga, Kevin Huynh, Matthias Arnold, Peter J. Meikle, Philip L. De Jager, Vilas Menon, Jessica E. Young, Tracy L. Young-Pearse
Cell Rep. Author manuscript; available in PMC 2023 Oct 12.
Published in final edited form as: Cell Rep. 2023 Aug 29; 42(8): 112994. Published online 2023 Aug 22. doi: 10.1016/j.celrep.2023.112994
PMCID:
PMC10568487
AbstractArticlePDF–4.1M
9.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
10.
Dimerization of the Alzheimer’s disease pathogenic receptor SORLA regulates its association with retromer
Anne Mette G. Jensen, Yu Kitago, Elnaz Fazeli, Christian B. Vægter, Scott A. Small, Gregory A. Petsko, Olav M. Andersen
Proc Natl Acad Sci U S A. 2023 Jan 24; 120(4): e2212180120. Published online 2023 Jan 18. doi: 10.1073/pnas.2212180120
PMCID:
PMC9942828
AbstractArticlePDF–2.5M
11.
Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer’s disease in a multigenerational Colombian Family
Johanna Alexandra Tejada Moreno, Andrés Villegas Lanau, Lucia Madrigal Zapata, Ana Yulied Baena Pineda, Juan Velez Hernandez, Omer Campo Nieto, Alejandro Soto Ospina, Pedronel Araque Marín, Lavanya Rishishwar, Emily T. Norris, Aroon T. Chande, I. King Jordan, Gabriel Bedoya Berrio
PLoS One. 2022; 17(7): e0269955. Published online 2022 Jul 29. doi: 10.1371/journal.pone.0269955
PMCID:
PMC9337667
AbstractArticlePDF–2.4M
12.
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean-François Deleuze, Robert Olaso, ADES consortium, Flora Alarcon, Dominique Campion, Grégory Nuel, Gaël Nicolas
Genome Med. 2022; 14: 69. Published online 2022 Jun 28. doi: 10.1186/s13073-022-01070-6
Correction in:
Genome Med. 2022; 14: 83.
PMCID:
PMC9238165
AbstractArticlePDF–1.4M
13.
ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1
Boris Simonetti, James L. Daly, Lorena Simón-Gracia, Katja Klein, Saroja Weeratunga, Carlos Antón-Plágaro, Allan Tobi, Lorna Hodgson, Philip A. Lewis, Kate J. Heesom, Deborah K. Shoemark, Andrew D. Davidson, Brett M. Collins, Tambet Teesalu, Yohei Yamauchi, Peter J. Cullen
Proc Natl Acad Sci U S A. 2022 Jun 21; 119(25): e2201980119. Published online 2022 Jun 13. doi: 10.1073/pnas.2201980119
PMCID:
PMC9231623
AbstractArticlePDF–6.0M
14.
OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization
Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti
Science. Author manuscript; available in PMC 2022 Sep 11.
Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983
PMCID:
PMC9119736
AbstractArticlePDF–3.3M
15.
Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling
Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser
Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151
PMCID:
PMC9105235
AbstractArticlePDF–5.8M
16.
SORL1 Polymorphisms in Mexican Patients with Alzheimer’s Disease
Danira Toral-Rios, Elizabeth Ruiz-Sánchez, Nancy Lucero Martínez Rodríguez, Marlene Maury-Rosillo, Óscar Rosas-Carrasco, Fernando Becerril-Pérez, Francisco Mena-Barranco, Rosa Carvajal-García, Daniela Silva-Adaya, Yair Delgado-Namorado, Gerardo Ramos-Palacios, Carmen Sánchez-Torres, Victoria Campos-Peña
Genes (Basel) 2022 Apr; 13(4): 587. Published online 2022 Mar 25. doi: 10.3390/genes13040587
PMCID:
PMC9026506
AbstractArticlePDF–1023K
17.
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
Maria Isabel Alvarez-Mora, Victor Antonio Blanco-Palmero, Juan Francisco Quesada-Espinosa, Ana Rosa Arteche-Lopez, Sara Llamas-Velasco, Carmen Palma Milla, Jose Miguel Lezana Rosales, Irene Gomez-Manjon, Aurelio Hernandez-Lain, Justino Jimenez Almonacid, Belén Gil-Fournier, Soraya Ramiro-León, Marta González-Sánchez, Alejandro Octavio Herrero-San Martín, David Andrés Pérez-Martínez, Estrella Gómez-Tortosa, Eva Carro, Fernando Bartolomé, Maria Jose Gomez-Rodriguez, María Teresa Sanchez-Calvin, Alberto Villarejo-Galende, Marta Moreno-Garcia
Int J Mol Sci. 2022 Apr; 23(8): 4230. Published online 2022 Apr 11. doi: 10.3390/ijms23084230
PMCID:
PMC9024679
AbstractArticlePDF–3.6M
18.
Upregulated of ANXA3, SORL1, and Neutrophils May Be Key Factors in the Progressionof Ankylosing Spondylitis
Jie Jiang, Xinli Zhan, Haishun Qu, Tuo Liang, Hao Li, Liyi Chen, Shengsheng Huang, Xuhua Sun, Wenyong Jiang, Jiarui Chen, Tianyou Chen, Yuanlin Yao, Shaofeng Wu, Jichong Zhu, Chong Liu
Front Immunol. 2022; 13: 861459. Published online 2022 Apr 6. doi: 10.3389/fimmu.2022.861459
PMCID:
PMC9019158
AbstractArticlePDF–21M
19.
The Alzheimer’s gene SORL1 is a regulator of endosomal traffic and recycling in human neurons
Swati Mishra, Allison Knupp, Marcell P. Szabo, Charles A. Williams, Chizuru Kinoshita, Dale W. Hailey, Yuliang Wang, Olav M. Andersen, Jessica E. Young
Cell Mol Life Sci. 2022 Mar; 79(3): 162. Published online 2022 Feb 28. doi: 10.1007/s00018-022-04182-9
PMCID:
PMC8885486
AbstractArticlePDF–8.9M
20.
Human transcription factor protein interaction networks
Helka Göös, Matias Kinnunen, Kari Salokas, Zenglai Tan, Xiaonan Liu, Leena Yadav, Qin Zhang, Gong-Hong Wei, Markku Varjosalo
Nat Commun. 2022; 13: 766. Published online 2022 Feb 9. doi: 10.1038/s41467-022-28341-5
PMCID:
PMC8828895
AbstractArticlePDF–1.7M

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