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Select item 111481841.

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

Abstract Article PDF–8.1M

Select item 111053022.

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

Abstract Article PDF–6.9M

Select item 110940983.

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

Abstract Article PDF–12M

Select item 108746994.

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

Abstract Article PDF–572K

Select item 108746985.

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

Abstract Article PDF–1.1M

Select item 107998066.

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

Abstract Article PDF–5.1M

Select item 107422247.

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

Abstract Article PDF–1.8M

Select item 105684878.

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

Abstract Article PDF–4.1M

Select item 102374229.

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

Abstract Article PDF–23M

Select item 994282810.

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

Abstract Article PDF–2.5M

Select item 933766711.

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

Abstract Article PDF–2.4M

Select item 923816512.

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

Abstract Article PDF–1.4M

Select item 923162313.

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

Abstract Article PDF–6.0M

Select item 911973614.

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

Abstract Article PDF–3.3M

Select item 910523515.

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

Abstract Article PDF–5.8M

Select item 902650616.

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

Abstract Article PDF–1023K

Select item 902467917.

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

Abstract Article PDF–3.6M

Select item 901915818.

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

Abstract Article PDF–21M

Select item 888548619.

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