Evidence map›Paper›PMID 29078805›Full record

ArticleActa neuropathologica communications2017

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

Maitane Ortiz-Virumbrales, Cesar L Moreno, Ilya Kruglikov, Paula Marazuela, Andrew Sproul, Samson Jacob, Matthew Zimmer, Daniel Paull, Bin Zhang, Eric E Schadt and 5 more

Abstract read
In one paragraph

Article in Acta neuropathologica communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers.

0numbers the graph read from it
0cells of the map it votes in
90citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

90 citing papers in PubMed.

  1. Article
  2. Unveiling the pathogenesis and therapeutic strategies of Alzheimer's disease through cuproptosis.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026
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  15. Targets and Gene Therapy of ALS (Part 1).International journal of molecular sciences · 2025
    Review
  16. Article
  17. Review
  18. Review
  19. Review
  20. Review

30 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Maitane Ortiz-VirumbralesDepartment of Neurology, NFL Neurological Care Center, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Cesar L MorenoDepartment of Neurology, NFL Neurological Care Center, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Ilya KruglikovThe New York Stem Cell Foundation Research Institute, New York, NY, USA.
Paula MarazuelaUniversidad Francisco de Vitoria, 28223 Pozuelo de Alarcón, Madrid, Spain.
Andrew SproulThe New York Stem Cell Foundation Research Institute, New York, NY, USA.
Samson JacobThe New York Stem Cell Foundation Research Institute, New York, NY, USA.
Matthew ZimmerThe New York Stem Cell Foundation Research Institute, New York, NY, USA.
Daniel PaullThe New York Stem Cell Foundation Research Institute, New York, NY, USA.
Bin ZhangDepartment of Genetics and Genomic Sciences, Icahn Institute for Multi-Scale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn Institute for Multi-Scale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Michelle E EhrlichDepartment of Neurology, NFL Neurological Care Center, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Rudolph E TanziGenetics and Aging Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, 02114, USA.
Ottavio ArancioDepartment of Pathology and Cell Biology, Columbia University, New York, NY, 10032, USA.
Scott NoggleThe New York Stem Cell Foundation Research Institute, New York, NY, USA. snoggle@nyscf.org.
Sam GandyDepartment of Neurology, NFL Neurological Care Center, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. samuel.gandy@mssm.edu.

Funding

VESICULAR LOCALIZATION AND FUNCTION OF PRESENILIN 1 FRAGMENTP50AG005138 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI GROSSMAN, HILLEL · 1985 to 2019
$37.9M
Integrative Network Biology Approaches to Identify, Characterize and Validate Molecular Subtypes in Alzheimer's DiseaseU01AG046170 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WANG, MINGHUI, ZHANG, BIN · 2013 to 2022
$26.0M
SUMOylation and Amyloid-beta elevationR01NS049442 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ARANCIO, OTTAVIO · 2005 to 2015
$4.1M
Transforming Genomics with 5 PB Big Omics Data Engine Cray CS300-AC SupercomputerS10OD018522 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2014 to 2014
$1.9M
Generation and Characterization of Alzheimer Brain CellsRF1AG042965 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GANDY, SAMUEL E., NOGGLE, SCOTT ALLEN · 2012 to 2012
$516k
NIA NIH HHS P50 AG005138NIA NIH HHS RF1 AG042965NIA NIH HHS U01 AG046170NIH HHS S10 OD018522NINDS NIH HHS R01 NS049442
6 · The paper itself

Abstract

Basal forebrain cholinergic neurons (BFCNs) are believed to be one of the first cell types to be affected in all forms of AD, and their dysfunction is clinically correlated with impaired short-term memory formation and retrieval. We present an optimized in vitro protocol to generate human BFCNs from iPSCs, using cell lines from presenilin 2 (PSEN2) mutation carriers and controls. As expected, cell lines harboring the PSEN2

Indexed as

CRISPR-Cas SystemsGene EditingAction PotentialsAdaptor Proteins, Signal TransducingAdultAlzheimer DiseaseAmyloid beta-PeptidesApoptosis Regulatory ProteinsBasal ForebrainCell DeathCell LineCholinergic NeuronsFemaleHeterozygoteHumansInduced Pluripotent Stem CellsAdaptor Proteins, Signal TransducingAmyloid beta-Peptidesamyloid beta-protein (1-40)amyloid beta-protein (1-42)Apoptosis Regulatory ProteinsNLRP2 protein, humanPeptide FragmentsPresenilin-2PSEN2 protein, humanRNA, MessengerAlzheimer’s diseaseBasal forebrainBFCNCholinergicCRISPR/Cas9ElectrophysiologyiPSCPresenilinPSEN2

Identifiers

PMID29078805
PMCPMC5660456

What OpenQuestion holds

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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.