Evidence map›Paper›PMID 25772071›Full record

ArticleCell stem cell2015

Elucidating molecular phenotypes caused by the SORL1 Alzheimer's disease genetic risk factor using human induced pluripotent stem cells.

Jessica E Young, Jonathan Boulanger-Weill, Daniel A Williams, Grace Woodruff, Floyd Buen, Arra C Revilla, Cheryl Herrera, Mason A Israel, Shauna H Yuan, Steven D Edland and 1 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cell stem cell, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
108citing papers in PubMed, 4 pooled it
9.6field-weighted citation impact, top 1% of its field
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

108 citing papers in PubMed, 4 syntheses or guidelines pooled it, 189 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Review
  6. The Alzheimer's disease risk gene SORL1 is a regulator of excitatory neuronal function.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Autophagy-lysosomal pathway in neurodegeneration.Molecular neurodegeneration advances · 2026
    Review
  14. Article
  15. Article
  16. Current Development of iPSC-Based Modeling in Neurodegenerative Diseases.International journal of molecular sciences · 2025
    Review
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 1 institution in 1 country.

Jessica E YoungDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Jonathan Boulanger-WeillDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Daniel A WilliamsDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Grace WoodruffDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Floyd BuenDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Arra C RevillaDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Cheryl HerreraDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Mason A IsraelDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Shauna H YuanDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
Steven D EdlandDepartment of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biostatistics, Department of Family and Preventive Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
Lawrence S B GoldsteinDepartment of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: lgoldstein@ucsd.edu.
University of California, San Diego · US

Funding

THERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2M
VIRUS-INDUCED BRAIN PATHOLOGYP50AG005131 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BREWER, JAMES B · 1985 to 2018
$55.4M
Training Program in Basic Clinical GeneticsT32GM008666 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI HAMILTON, BRUCE A · 1998 to 2021
$8.6M
Elucidating AD genotype-phenotype relationships using genetics of human IPS cellsRF1AG048083 · NIA · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GOLDSTEIN, LAWRENCE S. · 2014 to 2014
$1.9M
NIA NIH HHS 2P50AG005131-31NIA NIH HHS P50 AG005131NIA NIH HHS P50 AG005136NIA NIH HHS RF1 AG048083NIGMS NIH HHS T32 GM008666
6 · The paper itself

Abstract

Predisposition to sporadic Alzheimer's disease (SAD) involves interactions between a person's unique combination of genetic variants and the environment. The molecular effect of these variants may be subtle and difficult to analyze with standard in vitro or in vivo models. Here we used hIPSCs to examine genetic variation in the SORL1 gene and possible contributions to SAD-related phenotypes in human neurons. We found that human neurons carrying SORL1 variants associated with an increased SAD risk show a reduced response to treatment with BDNF, at the level of both SORL1 expression and APP processing. shRNA knockdown of SORL1 demonstrates that the differences in BDNF-induced APP processing between genotypes are dependent on SORL1 expression. We propose that the variation in SORL1 expression induction by BDNF is modulated by common genetic variants and can explain how genetic variation in this one locus can contribute to an individual's risk of developing SAD.

Indexed as

Alzheimer DiseaseBrain-Derived Neurotrophic FactorCell LineDNA Mutational AnalysisGene-Environment InteractionGene Expression RegulationGenetic Predisposition to DiseaseGenotypeHumansInduced Pluripotent Stem CellsLDL-Receptor Related ProteinsMembrane Transport ProteinsNeuronsPhenotypePolymorphism, GeneticProtein TransportBDNF protein, humanBrain-Derived Neurotrophic FactorLDL-Receptor Related ProteinsMembrane Transport ProteinsRNA, Small InterferingSerum Amyloid A ProteinSORL1 protein, human

Identifiers

PMID25772071
PMCPMC4388804
OpenAlexW2090139525

What OpenQuestion holds

Textmetadata
LicenceTDM
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.