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Publication

Property	Value
Working Groups	RG Brose
Subproject	None
Open Access	Yes
Publication Type	Journal Article
Peer Reviewed	Yes
PMID	41125872
DOI	10.1038/s41588-025-02361-5
Publication Year	2025
Title	Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Journal	Nature Genetics
ISSN	1061-4036
eISSN	1546-1718
URL	https://doi.org/10.1038/s41588-025-02361-5
Pages	2691-2704
Issue	11
Volume	57
Journal Abbreviation	Nat Genet
Authors	Asadollahi R, Ahmad A, Boonsawat P, Shahanoor Hinzen J, Lohse M, Bouazza-Arostegui B, Sun S, Utesch T, Sommer JD, Ilic D, Padmanarayana M, Fischermanns K, Ranjan M, Boll M, Ka C, Piton A, Mattioli F, Isidor B, Õunap K, Reinson K, Wojcik MH, Marshall CR, Mercimek-Andrews S, Matsumoto N, Miyake N, Stephan BdO, Honjo RS, Bertola DR, Kim CA, Yusupov R, Mefford HC, Christodoulou J, Lee J, Heath O, Brown NJ, Baker N, Stark Z, Delatycki M, Lake NJ, Zeidler S, Zuurbier L, Maas SM, de Kruiff CC, Rajabi F, Rodan LH, Coury SA, Platzer K, Oppermann H, Abou Jamra R, Beblo S, Maxton C, Śmigiel R, Underhill H, Dubbs H, Rosen A, Helbig KL, Helbig I, Ruggiero SM, Fitzgerald MP, Kraemer D, Prada CE, Tenney J, Jayakar P, Redon S, Lefranc J, Uguen K, Race S, Efthymiou S, Maroofian R, Houlden H, Coppens S, Deconinck N, Ashokkumar B, Varalakshmi P, Gowda K VR, Eghbal F, Ghayoor Karimiani E, Heidari M, Neidhardt J, Owczarek-Lipska M, Korenke GC, Bamshad MJ, Campeau PM, Lehman A, Hendon LG, Wentzensen IM, Monaghan KG, Chen Y, Szuto A, Cohn RD, Au PYB, Hübner C, Boschann F, Manickam K, Koboldt DC, Rad A, Oprea G, Bachman KK, Seeley AH, Agolini E, Terracciano A, Carmelo P, Bupp C, Grysko B, Rein-Rothschild A, Ben Zeev B, Margolin A, Morrison J, Dagli A, Stolerman E, Louie RJ, Washington C, Stevens SJC, Heijligers M, Alkuraya FS, Lisfeld J, Neu A, Paoli Monteiro F, Santos Pessoa AL, Camelo-Filho AE, Kok F, Koeberl D, Riley K, Burglen L, Doummar D, Héron B, Mignot C, Keren B, Charles P, Nava C, Bernhard FP, Kühn AA, Thoms S, Morrie RD, Mekhoubad S, Green EM, Barmada SJ, Gitler AD, Jahn O, Rhee JS, Rosenmund C, Mitkovski M, Sticht H, Sun H, Le Gac G, Taschenberger H, Brose N, Dittman JS, Rauch A, Lipstein N
First Author	Asadollahi R
Last Author	Lipstein N

External Resources

8454https://www.addgene.org/8454 Addgene identifier (8454, reused)

8455https://www.addgene.org/8455 Addgene identifier (8455, reused)

nature.c...-5.pdfhttps://www.nature.com/articles/s41588-025-02361-5.pdf Article fulltext

gro-2/152379http://resolver.sub.uni-goettingen.de/purl?gro-2/152379 GRO.publications identifier

6239https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=6239 NCBI taxonomy (C. elegans, Caenorhabditis elegans)

9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)

10090https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10090 NCBI taxonomy (mouse, Mus musculus)

10116https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=10116 NCBI taxonomy (rat, Rattus norvegicus)

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04za5zm41https://ror.org/04za5zm41 ROR identifier (04za5zm41, University Hospital Carl Gustav Carus)

028hv5492https://ror.org/028hv5492 ROR identifier (028hv5492, University Hospital Leipzig)

01zgy1s35https://ror.org/01zgy1s35 ROR identifier (01zgy1s35, University Medical Center Hamburg-Eppendorf)

021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)

0160cpw27https://ror.org/0160cpw27 ROR identifier (0160cpw27, University of Alberta)

03rmrcq20https://ror.org/03rmrcq20 ROR identifier (03rmrcq20, University of British Columbia)

03yjb2x39https://ror.org/03yjb2x39 ROR identifier (03yjb2x39, University of Calgary)

01e3m7079https://ror.org/01e3m7079 ROR identifier (01e3m7079, University of Cincinnati)

03wmf1y16https://ror.org/03wmf1y16 ROR identifier (03wmf1y16, University of Colorado Anschutz Medical Campus)

00f7hpc57https://ror.org/00f7hpc57 ROR identifier (00f7hpc57, University of Erlangen-Nuremberg)

00bmj0a71https://ror.org/00bmj0a71 ROR identifier (00bmj0a71, University of Greenwich)

01ej9dk98https://ror.org/01ej9dk98 ROR identifier (01ej9dk98, University of Melbourne)

00jmfr291https://ror.org/00jmfr291 ROR identifier (00jmfr291, University of Michigan)

044pcn091https://ror.org/044pcn091 ROR identifier (044pcn091, University of Mississippi Medical Center)

00b30xv10https://ror.org/00b30xv10 ROR identifier (00b30xv10, University of Pennsylvania)

03z77qz90https://ror.org/03z77qz90 ROR identifier (03z77qz90, University of Tartu)

03dbr7087https://ror.org/03dbr7087 ROR identifier (03dbr7087, University of Toronto)

03r0ha626https://ror.org/03r0ha626 ROR identifier (03r0ha626, University of Utah)

00cvxb145https://ror.org/00cvxb145 ROR identifier (00cvxb145, University of Washington)

02crff812https://ror.org/02crff812 ROR identifier (02crff812, University of Zurich)

02r109517https://ror.org/02r109517 ROR identifier (02r109517, Weill Cornell Medicine)

01qpw1b93https://ror.org/01qpw1b93 ROR identifier (01qpw1b93, Wroclaw Medical University)

03v76x132https://ror.org/03v76x132 ROR identifier (03v76x132, Yale University)

0135d1r83https://ror.org/0135d1r83 ROR identifier (0135d1r83, Yokohama City University)

static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM1_ESM.pdf Supplemental material

goeseek.gwdguser.de/studies/260https://goeseek.gwdguser.de/studies/260 Supplemental material (goeseek study)

static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM3_ESM.pdf Supplemental material (peer review)

static-c...SM.pdfhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM2_ESM.pdf Supplemental material (reporting summary)

static-c...SM.jpghttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM9_ESM.jpg Supplemental material (source data)

static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM10_ESM.xlsx Supplemental material (source data)

static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM6_ESM.xlsx Supplemental material (table)

static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM7_ESM.xlsx Supplemental material (table)

static-c...M.xlsxhttps://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM8_ESM.xlsx Supplemental material (table)

static-c...SM.mp4https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM4_ESM.mp4 Supplemental material (video)

static-c...SM.mp4https://static-content.springer.com/esm/art%3A10.1038%2Fs41588-025-02361-5/MediaObjects/41588_2025_2361_MOESM5_ESM.mp4 Supplemental material (video)

CVCL_0063https://scicrunch.org/resolver/CVCL_0063 SciCrunch identifier (RRID:CVCL_0063, HEK293T)

SCR_010279https://scicrunch.org/resolver/SCR_010279 SciCrunch identifier (RRID:SCR_010279, Adobe Illustrator)

SCR_005039https://scicrunch.org/resolver/SCR_005039 SciCrunch identifier (RRID:SCR_005039, Applied Biosystems)

SCR_018082https://scicrunch.org/resolver/SCR_018082 SciCrunch identifier (RRID:SCR_018082, Applied Biosystems 3130xl Genetic Analyzer)

SCR_004423https://scicrunch.org/resolver/SCR_004423 SciCrunch identifier (RRID:SCR_004423, Clontech)

SCR_002285https://scicrunch.org/resolver/SCR_002285 SciCrunch identifier (RRID:SCR_002285, Fiji)

SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)

SCR_000325https://scicrunch.org/resolver/SCR_000325 SciCrunch identifier (RRID:SCR_000325, Igor Pro)

SCR_006164https://scicrunch.org/resolver/SCR_006164 SciCrunch identifier (RRID:SCR_006164, Knime)

SCR_021038https://scicrunch.org/resolver/SCR_021038 SciCrunch identifier (RRID:SCR_021038, Molecular Devices DigiData 1440 digitizer)

SCR_013517https://scicrunch.org/resolver/SCR_013517 SciCrunch identifier (RRID:SCR_013517, New England Biolabs)

SCR_011323https://scicrunch.org/resolver/SCR_011323 SciCrunch identifier (RRID:SCR_011323, pClamp)

SCR_003689https://scicrunch.org/resolver/SCR_003689 SciCrunch identifier (RRID:SCR_001622, Tocris Bioscience)

SCR_018063https://scicrunch.org/resolver/SCR_018063 SciCrunch identifier (RRID:SCR_018063, Zeiss LSM 710 Confocal Inverted Microscope)

SCR_020925https://scicrunch.org/resolver/SCR_020925 SciCrunch identifier (RRID:SCR_020925, Zeiss LSM 880 with Airyscan Confocal Laser Scanning Microscope)

Q62768https://www.uniprot.org/uniprot/Q62768 UniProt Proteome identifier (Q62768, reused)

Q9UPW8https://www.uniprot.org/uniprot/Q9UPW8 UniProt Proteome identifier (Q9UPW8, reused)

mbexc.de...ction/https://mbexc.de/pathogenic-unc13a-variants-cause-a-neurodevelopmental-syndrome-by-impairing-synaptic-function/ Website entry (mbexc.de)

10.5281/zenodo.14554776https://doi.org/10.5281/zenodo.14554776 Zenodo identifier (10.5281/zenodo.14554776)

Technical Support: support.menoci@medizin.uni-goettingen.de

Department of Medical Informatics
University Medical Center Göttingen
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External Resources

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Links

Spokesperson

Prof. Dr. Tobias Moser

Spokesperson of Cluster of Excellence