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<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 (how the code is found and verified)
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: HHS | NIH | National Institute of Neurological Disorders and Stroke (NINDS) (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

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Data

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Code and data availability statement

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  • 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

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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

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