Integrated patient induced pluripotent stem cell models and Gaa-/- mice reveal central nervous system neural pathology in infantile-onset Pompe disease

doi:10.4252/wjsc.120578

Advanced Search

BPG is committed to discovery and dissemination of knowledge

Home / Archive / Volume 18, Issue 7

This Article

(3)

(0)

(29)

Peer-Review Report of This Article

CrossCheck and Google Search of This Article

Academic Rules and Norms of This Article

Supplementary Materials of This Article

Citation of this article

Corresponding Author of This Article

Research Domain of This Article

Article-Type of This Article

Open-Access Policy of This Article

Times Cited Counts in Google of This Article

Journal Information of This Article

Publication Name

World Journal of Stem Cells

ISSN

1948-0210

Publisher of This Article

Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Basic Study

Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.

World J Stem Cells. Jul 26, 2026; 18(7): 120578
Published online Jul 26, 2026. doi: 10.4252/wjsc.120578

Integrated patient induced pluripotent stem cell models and Gaa^-/- mice reveal central nervous system neural pathology in infantile-onset Pompe disease

Yi-Chang Jiao, Dan-Dan Zhao, Hai-Yan Zhang, Fu-Chen Liu

Yi-Chang Jiao, Dan-Dan Zhao, Fu-Chen Liu, Department of Neurology, Research Institute of Neuromuscular and Neurodegenerative Diseases, Qilu Hospital of Shandong University, Shandong Key Laboratory of Mitochondrial Medicine and Rare Diseases, Jinan 250012, Shandong Province, China

Hai-Yan Zhang, Pediatric Research Institute, Children’s Hospital Affiliated to Shandong University (Jinan Children’s Hospital), Jinan 250022, Shandong Province, China

Co-corresponding authors: Hai-Yan Zhang and Fu-Chen Liu.

Author contributions: Jiao YC, Zhao DD, Zhang HY, and Liu FC contributed to writing - review & editing; Jiao YC and Liu FC contributed to conceptualization; Jiao YC and Zhao DD contributed to methodology, investigation, and data curation; Jiao YC, Zhao DD, and Liu FC contributed to validation; Jiao YC contributed to formal analysis, writing - original draft, and visualization; Zhang HY and Liu FC contributed to resources, supervision, and project administration; Liu FC contributed to funding acquisition; Liu FC and Zhang HY contributed equally to the manuscript and are co-corresponding authors.

AI contribution statement: We used ChatGPT for language polishing and readability improvement. We confirm that all AI-assisted outputs have been carefully reviewed, verified, and validated and AI tools were not used to generate data, perform analyses, or draw scientific conclusions.

Supported by Natural Science Foundation of Shandong Province, No. ZR2023MH180.

Institutional review board statement: This study was conducted in accordance with the Declaration of Helsinki and approved by the Ethics Committee of Qilu Hospital of Shandong University (Approval No. 2020067, approved on 25 December 2020). Informed consent was obtained from the patient’s legal guardian.

Institutional animal care and use committee statement: All animal procedures were approved by the Institutional Animal Care and Use Committee of Qilu Hospital of Shandong University (Approval No. DWLL-202400116). All experiments were performed in accordance with the National Institutes of Health Guide for the Care and Use of Laboratory Animals.

Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.

ARRIVE guidelines statement: The authors have read the ARRIVE guidelines, and the manuscript was prepared and revised according to the ARRIVE guidelines.

Data sharing statement: Data will be made available upon reasonable request to the corresponding author.

Corresponding author: Fu-Chen Liu, MD, PhD, Professor, Department of Neurology, Qilu Hospital of Shandong University, No. 107 West Wenhua Road, Jinan 250012, Shandong Province, China. fuchen.liu@email.sdu.edu.cn

Received: March 3, 2026
Revised: April 3, 2026
Accepted: June 5, 2026
Published online: July 26, 2026
Processing time: 144 Days and 7.9 Hours

Core Tip

Core Tip: This study integrates patient-derived induced pluripotent stem cell neural lineages and Gaa^-/- mice to model central nervous system pathology in infantile-onset Pompe disease. Patient-specific cortical neurons, astrocytes, oligodendrocytes, and motor neurons recapitulate key lysosomal pathology seen in vivo. Gaa^-/- mice exhibit progressive glycogen accumulation, astrogliosis, and neuronal loss. This dual-platform approach faithfully reproduces infantile-onset Pompe disease neural features, providing a valuable system for mechanistic research and testing central nervous system-directed therapies.