Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2

by Simon Hsu, Anna A. Pimenova, Kimberly Hayes, Juan A. Villa, Matthew J. Rosene, Madhavi Jere, Alison M. Goate, Celeste M. Karch
Published 2020-06-01

Identification, characterization and expression profiles of PSEN2 in the Chinese tree shrew (Tupaia belangeri chinensis)

by Mingxue Li, Wenguang Wang, Dexuan Kuang, Leiying Ruan, Xiaohui Li, Xin Huang, Xiaomei Sun, Jiejie Dai, Caixia Lu
Published 2020-06-01

Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

by Federica Perrone, Maria Bjerke, Elisabeth Hens, Anne Sieben, Maarten Timmers, Arne De Roeck, Rik Vandenberghe, Kristel Sleegers, Jean-Jacques Martin, Peter P. De Deyn, Sebastiaan Engelborghs, Julie van der Zee, Christine Van Broeckhoven, Rita Cacace, on behalf of the BELNEU Consortium
Published 2020-09-01

APP, PSEN1, and PSEN2 Variants in Alzheimer’s Disease: Systematic Re-evaluation According to ACMG Guidelines

by Xuewen Xiao, Hui Liu, Xixi Liu, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Weiwei Zhang, Sizhe Zhang, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao, Bin Jiao
Published 2021-06-01

Alterações genéticas na doença de Alzheimer

by Cintia Fridman, Sheila P. Gregório, Emmanuel Dias Neto, Élida P. Benquique Ojopi
Published 2004-01-01

Presence of a mutation in PSEN1 or PSEN2 gene is associated with an impaired brain endothelial cell phenotype in vitro

by Snehal Raut, Ronak Patel, Abraham J. Al-Ahmad
Published 2021-01-01

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer’s disease

by Giau VV, Pyun JM, Bagyinszky E, An SSA, Kim SY
Published 2018-07-01

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

by Carlos Cruchaga, Gabe Haller, Sumitra Chakraverty, Kevin Mayo, Francesco L M Vallania, Robi D Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M Foroud, Bradley F Boeve, Neill R Graff-Radford, Pamela St Jean, Michael Lawson, Margaret G Ehm, Richard Mayeux, Alison M Goate, NIA-LOAD/NCRAD Family Study Consortium
Published 2012-01-01

Correction: Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

by Carlos Cruchaga, Sumitra Chakraverty, Kevin Mayo, Francesco L. M. Vallania, Robi D. Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M. Foroud, Bradley F. Boeve, Neill R. Graff-Radford, Pamela St. Jean, Michael Lawson, Margaret G. Ehm, Richard Mayeux, Alison M. Goate, for the NIA-LOAD/NCRAD Family Study Consortium
Published 2012-01-01

<i>APP, PSEN1</i>, and <i>PSEN2</i> Mutations in Asian Patients with Early-Onset Alzheimer Disease

by Vo Van Giau, Eva Bagyinszky, Young Chul Youn, Seong Soo A. An, SangYun Kim
Published 2019-09-01

Accelerated brain aging towards transcriptional inversion in a zebrafish model of the K115fs mutation of human PSEN2.

by Nhi Hin, Morgan Newman, Jan Kaslin, Alon M Douek, Amanda Lumsden, Seyed Hani Moussavi Nik, Yang Dong, Xin-Fu Zhou, Noralyn B Mañucat-Tan, Alastair Ludington, David L Adelson, Stephen Pederson, Michael Lardelli
Published 2020-01-01

Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations

by Anna A. Pimenova, Alison M. Goate
Published 2020-05-01

Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2.

by Haowei Jiang, Stephen Martin Pederson, Morgan Newman, Yang Dong, Karissa Barthelson, Michael Lardelli
Published 2020-01-01

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

by Hélène-Marie Lanoiselée, Gaël Nicolas, David Wallon, Anne Rovelet-Lecrux, Morgane Lacour, Stéphane Rousseau, Anne-Claire Richard, Florence Pasquier, Adeline Rollin-Sillaire, Olivier Martinaud, Muriel Quillard-Muraine, Vincent de la Sayette, Claire Boutoleau-Bretonniere, Frédérique Etcharry-Bouyx, Valérie Chauviré, Marie Sarazin, Isabelle le Ber, Stéphane Epelbaum, Thérèse Jonveaux, Olivier Rouaud, Mathieu Ceccaldi, Olivier Félician, Olivier Godefroy, Maite Formaglio, Bernard Croisile, Sophie Auriacombe, Ludivine Chamard, Jean-Louis Vincent, Mathilde Sauvée, Cecilia Marelli-Tosi, Audrey Gabelle, Canan Ozsancak, Jérémie Pariente, Claire Paquet, Didier Hannequin, Dominique Campion, collaborators of the CNR-MAJ project
Published 2017-03-01

CRISPR/Cas9-Correctable mutation-related molecular and physiological phenotypes in iPSC-derived Alzheimer’s PSEN2 N141I neurons

by Maitane Ortiz-Virumbrales, Cesar L. Moreno, Ilya Kruglikov, Paula Marazuela, Andrew Sproul, Samson Jacob, Matthew Zimmer, Daniel Paull, Bin Zhang, Eric E. Schadt, Michelle E. Ehrlich, Rudolph E. Tanzi, Ottavio Arancio, Scott Noggle, Sam Gandy
Published 2017-10-01

A case of possibly pathogenic PSEN2 R62C mutation in a patient with probable early-onset Alzheimer&rsquo;s dementia supported by structure prediction

by Park KW, An SS, Bagyinszky E, Kim SY
Published 2017-02-01

iPSC-derived familial Alzheimer’s PSEN2 N141I cholinergic neurons exhibit mutation-dependent molecular pathology corrected by insulin signaling

by Cesar L. Moreno, Lucio Della Guardia, Valeria Shnyder, Maitane Ortiz-Virumbrales, Ilya Kruglikov, Bin Zhang, Eric E. Schadt, Rudolph E. Tanzi, Scott Noggle, Christoph Buettner, Sam Gandy
Published 2018-06-01

New Insights into the Molecular Bases of Familial Alzheimer’s Disease

by Valeria D’Argenio, Daniela Sarnataro
Published 2020-04-01

A Novel Probable Pathogenic PSEN2 Mutation p.Phe369Ser Associated With Early-Onset Alzheimer's Disease in a Chinese Han Family: A Case Report

by Ke Wan, Zhen-Juan Ma, Xia Zhou, Yi-Mei Zhang, Xian-Feng Yu, Meng-Zhe You, Chao-Juan Huang, Wei Zhang, Zhong-Wu Sun
Published 2021-07-01

Generation of human induced pluripotent stem cell line from Alzheimer’s disease patient with PSEN2 N141I mutation using integration-free non-viral method

by Harry Murti, Kelvin Pieknell, Indra Bachtiar, Yanuar Alan Sulistio, Sang-Hun Lee
Published 2020-08-01