Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice.
Overview
and 9 other authors
Wookyung Yu1,2, Ho Min Kim9,16, Joon-Yong An10,11,12,13, Won Chan Oh5, Seok-Kyu Kwon7,17, Jin Young Kim8,18, Ji Won Um1,2, Alberto Fernández-Jaén18,19, Jaewon Ko1,219 affiliations
- Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST),Daegu, Korea
- Center for Synapse Diversity and Specificity, DGIST,Daegu, Korea
- Genomics, Genologica,Málaga, Spain
- Genomics, NimGenetics,Madrid, Spain
- Department of Pharmacology, University of Colorado School of Medicine, Anschutz Medical Campus,Aurora, CO USA
- Pediatric Primary Care, C.S. Doctor Cirajas, Madrid, Spain
- Brain Science Institute, Korea Institute of Science and Technology (KIST),Seoul, Korea
- Digital Omics Research Center, Korea Basic Science Institute (KBSI),Ochang, Korea
- Department of Biological Sciences, Korea Advanced Institute of Science and Technology (KAIST),Daejeon, Korea
- School of Biosystem and Biomedical Science, College of Health Science, Korea University,Seoul, Korea
- Department of Integrated Biomedical and Life Science, Korea University,Seoul, Korea
- BK21 Four R&E Center for Learning Health Systems, Korea University,Seoul, Korea
- L-HOPE Program for Community-Based Total Learning Health Systems, Korea University,Seoul, Korea
- Neuroimaging, Hospital Universitario Quirónsalud,Madrid, Spain
- Universidad Europea de Madrid,Madrid, Spain
- Center for Biomolecular & Cellular Structure, Institute for Basic Science (IBS),Daejeon, Korea
- Division of Bio-Medical Science & Technology, KIST School, Korea University of Science and Technology (UST),Daejeon, Korea
- College of Pharmacy, Chung-Ang University,Seoul, Korea
- Department of Pediatric Neurology, Hospital Universitario Quirónsalud,Madrid, Spain
Abstract
MDGA1 reportedly suppresses GABAergic synaptic inhibition and may be associated with schizophrenia. However, it has been unclear whether and how MDGA1 dysfunction causes neurodevelopmental disorders. Here, we describe two patients with autism spectrum disorder (ASD) carrying missense mutations in MDGA1: p.Val116Met/
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Data
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biostudies/ , EMBL-EBI; found in the notessourcedata
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The raw MS data files for total proteomics have been deposited to the MassIVE repository with identifier PXD057134 (http://
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Version 1, 30 September 2026: the first record
Recorded: type, language, journal, volume, issue, pages, dates, 29 authors, 6 keywords, 11 MeSH terms, 4 funders, 122 references, 38 RRIDs.
Cite
This paper
Kim, S., Kim, H., Pelayo, J. P., Alvarez, S., Jang, G., Kim, J., Kim, B., Hoelscher, V. M., Calleja-Pérez, B., Jung, H., Yang, Y., Lee, H. J., Lee, J., Kim, S., de la Peña, M. J., Lee, Y., Kim, S., Han, A.-r., Lee, D. S., . . . Ko, J. (2026). Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice. EMBO molecular medicine, 18(4), 1358-1398. https://
BibTeX
@article{kim2026bazedoxi
author = {Kim, Seungjoon and Kim, Hyeonho and Pelayo, Javier Porta and Alvarez, Sara and Jang, Gyubin and Kim, Jinhu and Kim, Byeongchan and Hoelscher, Victoria M and Calleja-Pérez, Beatriz and Jung, Hyunsu and Yang, Yeji and Lee, Hea Ji and Lee, Jihae and Kim, Seoyeon and de la Peña, Mar Jiménez and Lee, Yelin and Kim, Sohye and Han, Ah-reum and Lee, Dong Sun and Ji, Sangho and Yu, Wookyung and Kim, Ho Min and An, Joon-Yong and Oh, Won Chan and Kwon, Seok-Kyu and Kim, Jin Young and Um, Ji Won and Fernández-Jaén, Alberto and Ko, Jaewon},
title = {{Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice}},
journal = {EMBO molecular medicine},
year = {2026},
month = mar,
volume = {18},
number = {4},
pages = {1358--1398},
publisher = {Nature Publishing Group},
issn = {1757-4676},
doi = {10.1038/
url = {https://
pmid = {41862769},
pmcid = {PMC13084050}
}
RIS
TY - JOUR
AU - Kim, Seungjoon
AU - Kim, Hyeonho
AU - Pelayo, Javier Porta
AU - Alvarez, Sara
AU - Jang, Gyubin
AU - Kim, Jinhu
AU - Kim, Byeongchan
AU - Hoelscher, Victoria M
AU - Calleja-Pérez, Beatriz
AU - Jung, Hyunsu
AU - Yang, Yeji
AU - Lee, Hea Ji
AU - Lee, Jihae
AU - Kim, Seoyeon
AU - de la Peña, Mar Jiménez
AU - Lee, Yelin
AU - Kim, Sohye
AU - Han, Ah-reum
AU - Lee, Dong Sun
AU - Ji, Sangho
AU - Yu, Wookyung
AU - Kim, Ho Min
AU - An, Joon-Yong
AU - Oh, Won Chan
AU - Kwon, Seok-Kyu
AU - Kim, Jin Young
AU - Um, Ji Won
AU - Fernández-Jaén, Alberto
AU - Ko, Jaewon
TI - Bazedoxifene reverses sexually dimorphic autistic-like abnormalities in biallelic MDGA1-mutant mice
T2 - EMBO molecular medicine
J2 - EMBO Mol Med
PY - 2026
DA - 2026/
VL - 18
IS - 4
SP - 1358
EP - 1398
SN - 1757-4676
PB - Nature Publishing Group
DO - 10.1038/
UR - https://
LA - en
ER -
CSL-JSON
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