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Items: 1 to 20 of 127

1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
Circulating sLR11 levels predict severity of pulmonary hypertension due to left heart disease
Yusuke Joki, Hakuoh Konishi, Hiroyuki Ebinuma, Kiyoshi Takasu, Tohru Minamino
PLoS One. 2021; 16(12): e0261753. Published online 2021 Dec 29. doi: 10.1371/journal.pone.0261753
PMCID:
PMC8716052
AbstractArticlePDF–1.2M
11.
Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease
Anne Rovelet-Lecrux, Sebastien Feuillette, Laetitia Miguel, Catherine Schramm, Ségolène Pernet, Olivier Quenez, Isabelle Ségalas-Milazzo, Laure Guilhaudis, Stéphane Rousseau, Gaëtan Riou, Thierry Frébourg, Dominique Campion, Gaël Nicolas, Magalie Lecourtois
Acta Neuropathol Commun. 2021; 9: 196. Published online 2021 Dec 18. doi: 10.1186/s40478-021-01294-4
PMCID:
PMC8684260
AbstractArticlePDF–6.3M
12.
SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network
Christy Hung, Eleanor Tuck, Victoria Stubbs, Sven J. van der Lee, Cora Aalfs, Resie van Spaendonk, Philip Scheltens, John Hardy, Henne Holstege, Frederick J. Livesey
Cell Rep. 2021 Jun 15; 35(11): 109259. Published online 2021 Jun 15. doi: 10.1016/j.celrep.2021.109259
PMCID:
PMC8220253
AbstractArticle
13.
SORL1 mutations are associated with parkinsonian and psychiatric features in Alzheimer disease: Case reports
Guozhen Qiu, Chunyan Xu, Qiwen Guo, Fei-Qi Zhu
Medicine (Baltimore) 2021 Apr 23; 100(16): e25585. Published online 2021 Apr 23. doi: 10.1097/MD.0000000000025585
PMCID:
PMC8078300
AbstractArticlePDF–410K
14.
Expression of an alternatively spliced variant of SORL1 in neuronal dendrites is decreased in patients with Alzheimer’s disease
Giulia Monti, Mads Kjolby, Anne Mette G. Jensen, Mariet Allen, Juliane Reiche, Peter L. Møller, Raquel Comaposada-Baró, Bartlomiej E. Zolkowski, Cármen Vieira, Margarita Melnikova Jørgensen, Ida E. Holm, Paul N. Valdmanis, Niels Wellner, Christian B. Vægter, Sarah J. Lincoln, Anders Nykjær, Nilüfer Ertekin-Taner, Jessica E. Young, Mette Nyegaard, Olav M. Andersen
Acta Neuropathol Commun. 2021; 9: 43. Published online 2021 Mar 16. doi: 10.1186/s40478-021-01140-7
PMCID:
PMC7962264
AbstractArticlePDF–3.2M
15.
Depletion of the AD Risk Gene SORL1 Selectively Impairs Neuronal Endosomal Traffic Independent of Amyloidogenic APP Processing
Allison Knupp, Swati Mishra, Refugio Martinez, Jacquelyn E. Braggin, Marcell Szabo, Chizuru Kinoshita, Dale W. Hailey, Scott A. Small, Suman Jayadev, Jessica E. Young
Cell Rep. Author manuscript; available in PMC 2020 Aug 6.
Published in final edited form as: Cell Rep. 2020 Jun 2; 31(9): 107719. doi: 10.1016/j.celrep.2020.107719
PMCID:
PMC7409533
AbstractArticlePDF–1002K
16.
De novo Resonance Assignment of the Transmembrane Domain of LR11/SorLA in E. coli Membranes
Xiaoyan Ding, Riqiang Fu, Fang Tian
J Magn Reson. Author manuscript; available in PMC 2021 Jan 1.
Published in final edited form as: J Magn Reson. 2020 Jan; 310: 106639. Published online 2019 Nov 1. doi: 10.1016/j.jmr.2019.106639
PMCID:
PMC6935515
AbstractArticlePDF–1.0M
17.
An alternative transcript of the Alzheimer’s disease risk gene SORL1 encodes a truncated receptor
Jenny Blechingberg, Annemarie Svane Aavild Poulsen, Mads Kjølby, Giulia Monti, Mariet Allen, Anne Kathrine Ivarsen, Sarah J. Lincoln, Gangadaar Thotakura, Christian B. Vægter, Nilüfer Ertekin-Taner, Anders Nykjær, Olav M. Andersen
Neurobiol Aging. Author manuscript; available in PMC 2019 Oct 1.
Published in final edited form as: Neurobiol Aging. 2018 Nov; 71: 266.e11–266.e24. Published online 2018 Jun 28. doi: 10.1016/j.neurobiolaging.2018.06.021
PMCID:
PMC6769419
AbstractArticlePDF–1.8M
18.
SORLA regulates endosomal trafficking and oncogenic fitness of HER2
Mika Pietilä, Pranshu Sahgal, Emilia Peuhu, Niklas Z. Jäntti, Ilkka Paatero, Elisa Närvä, Hussein Al-Akhrass, Johanna Lilja, Maria Georgiadou, Olav M. Andersen, Artur Padzik, Harri Sihto, Heikki Joensuu, Matias Blomqvist, Irena Saarinen, Peter J. Boström, Pekka Taimen, Johanna Ivaska
Nat Commun. 2019; 10: 2340. Published online 2019 May 28. doi: 10.1038/s41467-019-10275-0
PMCID:
PMC6538630
AbstractArticlePDF–3.7M
19.
Genetic Epistasis Regulates Amyloid Deposition in Resilient Aging
Daniel Felsky, Jishu Xu, Lori Chibnik, Julie Schneider, Jo Knight, James L Kennedy, the Alzheimer’s Disease Neuroimaging Initiative, David A Bennett, Philip L De Jager, Aristotle N Voineskos
Alzheimers Dement. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Alzheimers Dement. 2017 Oct; 13(10): 1107–1116. Published online 2017 Mar 17. doi: 10.1016/j.jalz.2017.01.027
PMCID:
PMC5601013
AbstractArticlePDF–585K
20.
Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy
Henne Holstege, Sven J van der Lee, Marc Hulsman, Tsz Hang Wong, Jeroen GJ van Rooij, Marjan Weiss, Eva Louwersheimer, Frank J Wolters, Najaf Amin, André G Uitterlinden, Albert Hofman, M Arfan Ikram, John C van Swieten, Hanne Meijers-Heijboer, Wiesje M van der Flier, Marcel JT Reinders, Cornelia M van Duijn, Philip Scheltens
Eur J Hum Genet. 2017 Aug; 25(8): 973–981. Published online 2017 May 24. doi: 10.1038/ejhg.2017.87
PMCID:
PMC5567154
AbstractArticlePDF–556K

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