OSCR

<i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant.

Overview

Authors: Megan K. Gautier1, Kaitlyn King2, Yongseok Han2, Hooda Said2, Mohamad-Gabriel Alameh2,3,4, Xiao Wang5,6,7, Xinying Hong2,3, Kiran Musunuru1,5,6,7,8, Rebecca C. Ahrens-Nicklas1,7,8
ORCID iDs: Megan K. Gautier, Rebecca C. Ahrens-Nicklas
  1. Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
  2. Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
  3. Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
  4. Penn Institute for RNA Innovation, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
  5. Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
  6. Division of Cardiovascular Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
  7. Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
  8. Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA
Institutions: Children's Hospital of Philadelphia (United States); University of Pennsylvania (United States)
Journal: Molecular therapy. Advances, volume 34, issue 2, article 201760
Dates: received 17 December 2025; accepted 11 May 2026; published online 14 May 2026
Type: Research article · Language: English
License: CC BY-NC-ND
Identifiers: DOI 10.1016/j.omta.2026.201760 · PMID 42290942 · PMCID PMC13254678 · OpenAlex W7161174429
Open access: hybrid, a free copy (OpenAlex)
Status: code on request
Categories: human (organism)
Keywords: PKU, PAH, phenylalanine, in vivo gene therapy, base editing, mRNA, lipid nanoparticle, inborn error of metabolism, neurotransmitter, rotarod
Topic: Metabolism and Genetic Disorders (Clinical Biochemistry, Biochemistry, Genetics and Molecular Biology), according to OpenAlex
Funding: National Institute of Neurological Disorders and Stroke (T32-NS007413); U.S. National Institute of Health (R35-HL145203, RO1-HL148769, U01-TR005355, U19-NS132301); TAPITMAT; Gene Therapy and Inherited Metabolic Disorders
Citations: cited by 1 paper (Europe PMC); 70 references in the paper

Abstract

The abstract is not reproduced here: the paper's license (CC BY-NC-ND) does not allow it. Read it in the paper, at the publisher or on Europe PMC.

Code

The paper says that its authors' code is available on request: it was not published with the paper, so there is nothing to verify.

The paper's code and data availability statement is in the Data section.

Tracing map

A tracing map links a paper to the code its authors published: this paper has none (its code is available on request), so it has no map.

Data

No dataset and no data link were found in the paper.

Code and data availability statement

The paper has a code and data availability statement. Its license (CC BY-NC-ND) does not allow reproducing it here; in short, from what the harvester recognized in it:

  • it says that the data are available on request
  • it says that the code is available on request

Read it in the paper: doi.org/10.1016/j.omta.2026.201760.

Versions

The history of this record: each version stored by the harvester or made by a correction of its authors or of the maintainers of its code, and what changed in its facts. The texts of the paper (its abstract, its availability statements) are not part of it; versions that changed only those are not listed.

Version 2, 28 September 2026

  • Authors: added Megan K. Gautier (0009-0009-3531-5006); Rebecca C. Ahrens-Nicklas (0000-0001-8243-7123); removed Megan K. Gautier; Rebecca C. Ahrens-Nicklas

Version 1, 28 September 2026: the first record

Recorded: type, language, journal, volume, issue, pages, dates, 9 authors, 10 keywords, 4 funders, 69 references.

Cite

This paper

Gautier, M. K., King, K., Han, Y., Said, H., Alameh, M.-G., Wang, X., Hong, X., Musunuru, K., & Ahrens-Nicklas, R. C. (2026). <i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant. Molecular therapy. Advances, 34(2), 201760. https://doi.org/10.1016/j.omta.2026.201760

BibTeX

@article{gautier2026lt,
author = {Gautier, Megan K. and King, Kaitlyn and Han, Yongseok and Said, Hooda and Alameh, Mohamad-Gabriel and Wang, Xiao and Hong, Xinying and Musunuru, Kiran and Ahrens-Nicklas, Rebecca C.},
title = {{\<i\>In vivo\</i\> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant}},
journal = {Molecular therapy. Advances},
year = {2026},
month = may,
volume = {34},
number = {2},
pages = {201760},
publisher = {American Society of Gene \& Cell Therapy},
issn = {3117-387X},
doi = {10.1016/j.omta.2026.201760},
url = {https://doi.org/10.1016/j.omta.2026.201760},
pmid = {42290942},
pmcid = {PMC13254678}
}

RIS

TY - JOUR
AU - Gautier, Megan K.
AU - King, Kaitlyn
AU - Han, Yongseok
AU - Said, Hooda
AU - Alameh, Mohamad-Gabriel
AU - Wang, Xiao
AU - Hong, Xinying
AU - Musunuru, Kiran
AU - Ahrens-Nicklas, Rebecca C.
TI - <i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant
T2 - Molecular therapy. Advances
J2 - Mol Ther Adv
PY - 2026
DA - 2026/05/14
VL - 34
IS - 2
SP - 201760
SN - 3117-387X
PB - American Society of Gene & Cell Therapy
DO - 10.1016/j.omta.2026.201760
UR - https://doi.org/10.1016/j.omta.2026.201760
LA - en
ER -

CSL-JSON

{
"id": "10.1016/j.omta.2026.201760",
"type": "article-journal",
"title": "<i>In vivo</i> adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant",
"container-title": "Molecular therapy. Advances",
"author": [
{
"family": "Gautier",
"given": "Megan K."
},
{
"family": "King",
"given": "Kaitlyn"
},
{
"family": "Han",
"given": "Yongseok"
},
{
"family": "Said",
"given": "Hooda"
},
{
"family": "Alameh",
"given": "Mohamad-Gabriel"
},
{
"family": "Wang",
"given": "Xiao"
},
{
"family": "Hong",
"given": "Xinying"
},
{
"family": "Musunuru",
"given": "Kiran"
},
{
"family": "Ahrens-Nicklas",
"given": "Rebecca C."
}
],
"container-title-short": "Mol Ther Adv",
"volume": "34",
"issue": "2",
"page": "201760",
"DOI": "10.1016/j.omta.2026.201760",
"PMID": "42290942",
"PMCID": "PMC13254678",
"ISSN": "3117-387X",
"publisher": "American Society of Gene & Cell Therapy",
"URL": "https://doi.org/10.1016/j.omta.2026.201760",
"language": "en",
"issued": {
"date-parts": [
[
2026,
5,
14
]
]
}
}

Similar papers

The papers with a page that share the most with this one: the tools found in their code, their categories, datasets, cited references and authors, the rarest counting most.

[1] doi:10.1017/neu.2026.10078 [code]
Improved dietary control results in improvements in indices of white matter structure in adults with phenylketonuria: the ReDAPT study.
Journal: Acta neuropsychiatrica
In common: 4 references
[2] doi:10.1016/j.omta.2026.201835
Base editing rescues a hereditary motor neuron disease in mouse and patient-derived iPSC organoid models.
Journal: Molecular therapy. Advances
In common: 2 references
[3] doi:10.1038/s44321-026-00433-5
Long-term restoration of auditory function in a DFNA2 mouse model by adenine base editing.
Journal: EMBO molecular medicine
In common: 2 references
[4] doi:10.1038/s41392-026-02793-3
Engineered tRNA reduces vision loss in a mouse model of Leber congenital amaurosis.
Journal: Signal transduction and targeted therapy
In common: 1 reference
[5] doi:10.1073/pnas.2610782123
An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.
Journal: Proceedings of the National Academy of Sciences of the United States of America
In common: 1 reference
[6] doi:10.1016/j.neuron.2026.07.007 [code]
Human-specific SRGAP2 paralogs synchronize neotenic microglial maturation and synaptic development.
Journal: Neuron
In common: 1 reference
[7] doi:10.1016/j.omtn.2026.103025
Design and development of lipid nanoparticle formulations for brain gene therapy.
Journal: Molecular therapy. Nucleic acids
In common: 1 reference
[8] doi:10.1016/j.omta.2026.201729
Swine reporter model for preclinical evaluation and characterization of gene delivery vectors.
Journal: Molecular therapy. Advances
In common: 1 reference
[9] doi:10.3389/fmicb.2026.1811435
Research on the role of gut microbiota metabolites in autism by multi-omics and network pharmacology.
Journal: Frontiers in microbiology
In common: 1 reference
[10] doi:10.1111/acer.70406
Prenatal Alcohol Exposure Produces Selective Changes in Neuroimmune Gene Expression Across Brain Regions of Adult Mice.
Journal: Alcohol, clinical & experimental research
In common: 1 reference

Contribute

The authors of this paper can claim it, correct its record and validate its tracing map, and the maintainers of its code (its owner, or a public member of its organization) correct what it says of their repository; anyone signed in can ask for its removal. Every request goes to OSCR's own machine, which answers it; your account page follows them.

Sign in with ORCID to claim this paper as one of its authors, correct its record or validate its tracing map: when the paper's metadata lists your ORCID iD, you are recognized at once. Maintainers of its code: sign in with GitHub, then claim the repository on your account page.

Request its removal

To ask OSCR to remove this record, the copies of its authors' scripts or its tracing map, use the removal request page: signed in, you say who you are, what to remove and why, then review and confirm the request. Published rules decide every request (how).

Discussion, reproductions, activity

Discussion: questions and error reports about this paper and its code, from signed-in readers and its authors. It opens with sign-in.

Reproductions: reports from readers who ran the authors' code: what they reproduced, with which environment, commit and data. It opens with sign-in.

Activity: what happens around this paper: new versions of its record, its map's validation, discussions and reproductions. It opens with sign-in.