Evidence map›Paper›PMID 38876822›Full record

ArticleNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2024

MeCP2 gene therapy ameliorates disease phenotype in mouse model for Pitt Hopkins syndrome.

Cassandra N Dennys, Sheryl Anne D Vermudez, Robert J M Deacon, J Andrea Sierra-Delgado, Kelly Rich, Xiaojin Zhang, Aditi Buch, Kelly Weiss, Yuta Moxley, Hemangi Rajpal and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. AAV vector development, back to the future.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  3. Article
  4. Article
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

17 authors.

Cassandra N DennysCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Sheryl Anne D VermudezDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA.
Robert J M DeaconDepartment of Genetics, Institute of Ecology and Biodiversity, Faculty of Science, University of Chile, Chile.
J Andrea Sierra-DelgadoCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Kelly RichCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Xiaojin ZhangCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Aditi BuchDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA.
Kelly WeissDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA.
Yuta MoxleyDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA.
Hemangi RajpalDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA.
Francisca D EspinozaFaculty of Medicine, Universidad Católica de la Santísima Concepción, Concepción, 4090541, Chile.
Samantha PowersCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Ariel S ÁvilaFaculty of Medicine, Universidad Católica de la Santísima Concepción, Concepción, 4090541, Chile.
Rocco G GogliottiDepartment of Molecular Pharmacology and Neuroscience, Loyola University Chicago, Maywood, IL 60153, USA.
Patricia CogramDepartment of Genetics, Institute of Ecology and Biodiversity, Faculty of Science, University of Chile, Chile.
Colleen M NiswenderDepartment of Pharmacology and Warren Center for Neuroscience Drug Discovery, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Brain Institute, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Kathrin C MeyerCenter for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University Medical Center, Columbus, OH, USA; Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH, USA. Electronic address: km2dq@missouri.edu.

Funding

Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3M
A precision medicine approach to Rett SyndromeR01NS112171 · NINDS · LOYOLA UNIVERSITY CHICAGO · PI GOGLIOTTI, ROCCO GEORGE · 2020 to 2024
$1.7M
miRNA site-blocking ASOs as MeCP2 targeted therapeuticsR21HD111864 · NICHD · LOYOLA UNIVERSITY CHICAGO · PI GOGLIOTTI, ROCCO GEORGE · 2023 to 2024
$424k
Stratifying Rett syndrome patient populations to evaluate the efficacy of genetic and pharmacological therapeutic interventionsF31MH119699 · NIMH · VANDERBILT UNIVERSITY · PI VERMUDEZ, SHERYL ANNE DAGUIMOL · 2019 to 2021
$91k
NICHD NIH HHS P50 HD103537NICHD NIH HHS R21 HD111864NIMH NIH HHS F31 MH119699NINDS NIH HHS R01 NS112171
6 · The paper itself

Abstract

The neurodevelopmental disorder Pitt Hopkins syndrome (PTHS) causes clinical symptoms similar to Rett syndrome (RTT) patients. However, RTT is caused by MECP2 mutations whereas mutations in the TCF4 gene lead to PTHS. The mechanistic commonalities underling these two disorders are unknown, but their shared symptomology suggest that convergent pathway-level disruption likely exists. We reprogrammed patient skin derived fibroblasts into induced neuronal progenitor cells. Interestingly, we discovered that MeCP2 levels were decreased in PTHS patient iNPCs relative to healthy controls and that both iNPCs and iAstrocytes displayed defects in function and differentiation in a mutation-specific manner. When Tcf4

Indexed as

Disease Models, AnimalGenetic TherapyMethyl-CpG-Binding Protein 2PhenotypeTranscription Factor 4AnimalsFaciesFemaleFibroblastsHumansHyperventilationIntellectual DisabilityMaleMiceMice, Inbred C57BLMice, TransgenicMECP2 protein, humanMecp2 protein, mouseMethyl-CpG-Binding Protein 2Transcription Factor 4AAV gene therapyMecp2Pitt Hopkins syndromeTCF4

Identifiers

PMID38876822
PMCPMC11579869

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.