Evidence map›Paper›PMID 36899894›Full record

ArticleCells2023

Age-Dependent Dysregulation of APP in Neuronal and Skin Cells from Fragile X Individuals.

Giulia Cencelli, Laura Pacini, Anastasia De Luca, Ilenia Messia, Antonietta Gentile, Yunhee Kang, Veronica Nobile, Elisabetta Tabolacci, Peng Jin, Maria Giulia Farace and 1 more

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

Article in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

0 citing papers in PubMed, 6 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 3 institutions in 3 countries.

Giulia CencelliDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Laura PaciniDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Anastasia De LucaDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.ORCID 0000-0002-6532-989X
Ilenia MessiaDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Antonietta GentileDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.ORCID 0000-0003-2456-0769
Yunhee KangDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0001-5622-4570
Veronica NobileInstitute of Genomic Medicine, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Catholic University, 00168 Rome, Italy.
Elisabetta TabolacciInstitute of Genomic Medicine, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Catholic University, 00168 Rome, Italy.ORCID 0000-0002-4707-2242
Peng JinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.ORCID 0000-0001-6137-6659
Maria Giulia FaraceDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Claudia BagniDepartment of Biomedicine and Prevention, Faculty of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
University of Rome Tor Vergata · ITAgostino Gemelli University Polyclinic · ITEmory University · US

Funding

Telethon GGP15257
6 · The paper itself

Abstract

Fragile X syndrome (FXS) is the most common form of monogenic intellectual disability and autism, caused by the absence of the functional fragile X messenger ribonucleoprotein 1 (FMRP). FXS features include increased and dysregulated protein synthesis, observed in both murine and human cells. Altered processing of the amyloid precursor protein (APP), consisting of an excess of soluble APPα (sAPPα), may contribute to this molecular phenotype in mice and human fibroblasts. Here we show an age-dependent dysregulation of APP processing in fibroblasts from FXS individuals, human neural precursor cells derived from induced pluripotent stem cells (iPSCs), and forebrain organoids. Moreover, FXS fibroblasts treated with a cell-permeable peptide that decreases the generation of sAPPα show restored levels of protein synthesis. Our findings suggest the possibility of using cell-based permeable peptides as a future therapeutic approach for FXS during a defined developmental window.

Indexed as

Fragile X SyndromeNeural Stem CellsAmyloid beta-Protein PrecursorHumansNeuronsAmyloid beta-Protein PrecursorAPP protein, humanADAM10APP processingFragile X syndromeiPSCspeptide therapyprotein synthesisSAP97

Identifiers

PMID36899894
PMCPMC10000963
OpenAlexW4322629197

What Socratic holds

Textfull text, public
LicenceCC BY
measurements read16
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 Socratic graph.