| Property |
Value |
| Working Groups |
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
41053928 |
| DOI |
10.1002/ana.78013 |
| Publication Year |
2025 |
| Title |
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism |
| Journal |
Annals of Neurology |
| ISSN |
0364-5134 |
| eISSN |
1531-8249 |
| URL |
https://doi.org/10.1002/ana.78013 |
| Journal Abbreviation |
Ann Neurol |
| Authors |
Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi‐Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FM, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi‐Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié‐Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stüve B, Li Y, Yigit G, Wollnik B, Monje MH, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dötsch J, von Kleist‐Retzow J, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi‐Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H |
| First Author |
Dafsari HS |
| Last Author |
Jungbluth H |
External Resources
45875https://www.addgene.org/45875 Addgene identifier (45875, reused)
56018https://www.addgene.org/56018 Addgene identifier (56018, reused)
21074https://www.addgene.org/21074 Addgene identifier (21074, reused)
onlineli....78013https://onlinelibrary.wiley.com/doi/epdf/10.1002/ana.78013 Article fulltext
EPG5https://www.ensembl.org/Multi/Search/Results?q=EPG5 Ensembl identifier (EPG5)
2/152235https://publications.goettingen-research-online.de/handle/2/152235 GRO.publications identifier
192333https://www.ncbi.nlm.nih.gov/clinvar/variation/192333 NCBI clinvar (192333)
57724https://www.ncbi.nlm.nih.gov/gene/57724 NCBI gene (57724)
174050https://www.ncbi.nlm.nih.gov/gene/174050 NCBI gene (174050)
176816https://www.ncbi.nlm.nih.gov/gene/176816 NCBI gene (176816)
181053https://www.ncbi.nlm.nih.gov/gene/181053 NCBI gene (181053)
GCF_000001405.40https://www.ncbi.nlm.nih.gov/datasets/genome/GCF_000001405.40 NCBI genome (GCF_000001405.40)
AFP33150.1https://www.ncbi.nlm.nih.gov/protein/AFP33150.1 NCBI protein (rab-7, partial (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)
6239https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=6239 NCBI taxonomy (nematode, Caenorhabditis elegans)
0000-0003-3483-5009https://orcid.org/0000-0003-3483-5009 ORCID identifier (Hormos Salimi Dafsari)
0000-0002-8854-6619https://orcid.org/0000-0002-8854-6619 ORCID identifier (Celine Deneubourg)
0000-0003-4072-6888https://orcid.org/0000-0003-4072-6888 ORCID identifier (Kritarth Singh)
0000-0001-6763-1542https://orcid.org/0000-0001-6763-1542 ORCID identifier (Reza Maroofian)
0000-0002-9753-2091https://orcid.org/0000-0002-9753-2091 ORCID identifier (Ay Lin Kho)
0000-0002-0916-7347https://orcid.org/0000-0002-0916-7347 ORCID identifier (Neil J Ingham)
0000-0002-8019-5359https://orcid.org/0000-0002-8019-5359 ORCID identifier (Karen P Steel)
0000-0003-3255-5644https://orcid.org/0000-0003-3255-5644 ORCID identifier (Preethi Sheshadri)
0000-0002-7005-3787https://orcid.org/0000-0002-7005-3787 ORCID identifier (Mina Zamani)
0000-0001-5877-9086https://orcid.org/0000-0001-5877-9086 ORCID identifier (Cesar Alves)
0000-0002-1820-9705https://orcid.org/0000-0002-1820-9705 ORCID identifier (Ata Siddiqui)
0000-0001-8849-4233https://orcid.org/0000-0001-8849-4233 ORCID identifier (Haidar S Dafsari)
0000-0003-1229-3667https://orcid.org/0000-0003-1229-3667 ORCID identifier (Anthony E. Lang)
0000-0002-7935-3401https://orcid.org/0000-0002-7935-3401 ORCID identifier (Saeid Sadeghian)
0000-0001-6281-4809https://orcid.org/0000-0001-6281-4809 ORCID identifier (Hamid Galehdari)
0000-0002-6295-127Xhttps://orcid.org/0000-0002-6295-127X ORCID identifier (Gholamreza Shariati)
0009-0006-1495-2389https://orcid.org/0009-0006-1495-2389 ORCID identifier (Alireza Sedaghat)
0000-0001-6860-372Xhttps://orcid.org/0000-0001-6860-372X ORCID identifier (Daniel Calame)
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0000-0002-0261-0406https://orcid.org/0000-0002-0261-0406 ORCID identifier (Carrie A. Mohila)
0000-0002-0945-4418https://orcid.org/0000-0002-0945-4418 ORCID identifier (Saurabh Chopra)
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0000-0002-0026-4714https://orcid.org/0000-0002-0026-4714 ORCID identifier (Darius Ebrahimi-Fakhar)
0000-0002-3023-302Xhttps://orcid.org/0000-0002-3023-302X ORCID identifier (Büsra Eser Çavdartepe)
0000-0002-5842-5912https://orcid.org/0000-0002-5842-5912 ORCID identifier (Irene J Chang)
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0000-0002-1087-6845https://orcid.org/0000-0002-1087-6845 ORCID identifier (Bernice Lo)
0000-0003-0719-1607https://orcid.org/0000-0003-0719-1607 ORCID identifier (Luisa Averdunk)
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0000-0002-2508-9107https://orcid.org/0000-0002-2508-9107 ORCID identifier (Frances Elmslie)
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0000-0002-9876-744Xhttps://orcid.org/0000-0002-9876-744X ORCID identifier (Saskia Koene)
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0000-0003-4705-3794https://orcid.org/0000-0003-4705-3794 ORCID identifier (Mohammad Miryounesi)
0000-0002-9996-9406https://orcid.org/0000-0002-9996-9406 ORCID identifier (Farzad Hashemi-Gorji)
0000-0002-3484-3423https://orcid.org/0000-0002-3484-3423 ORCID identifier (Shahryar Alavi)
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0000-0002-6864-0149https://orcid.org/0000-0002-6864-0149 ORCID identifier (Saeideh Kavousi)
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0000-0001-5726-737Xhttps://orcid.org/0000-0001-5726-737X ORCID identifier (Pinar Ozkan Kart)
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0000-0002-6270-4885https://orcid.org/0000-0002-6270-4885 ORCID identifier (Madeleine Joubert)
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1/676https://mbexc.uni-goettingen.de/archive/1/676 Research Data Archive (supplemental material)
01rws6r75https://ror.org/01rws6r75 ROR identifier (01rws6r75, Ahvaz Jundishapur University of Medical Sciences)
05ahcwz21https://ror.org/05ahcwz21 ROR identifier (05ahcwz21, Amrita Institute of Medical Sciences and Research Centre)
05grdyy37https://ror.org/05grdyy37 ROR identifier (05grdyy37, Amsterdam University Medical Center)
01jaj8n65https://ror.org/01jaj8n65 ROR identifier (01jaj8n65, Assiut University)
02sy42d13https://ror.org/02sy42d13 ROR identifier (02sy42d13, Bambino Gesù Children's Hospital)
00b31g692https://ror.org/00b31g692 ROR identifier (00b31g692, Barts Health NHS Trust)
02pttbw34https://ror.org/02pttbw34 ROR identifier (02pttbw34, Baylor College of Medicine)
00dvg7y05https://ror.org/00dvg7y05 ROR identifier (00dvg7y05, Boston Children’s Hospital)
029d09756https://ror.org/029d09756 ROR identifier (029d09756, Cardiff and Vale UHB–AWMGS)
03ccx3r49https://ror.org/03ccx3r49 ROR identifier (03ccx3r49, Centogene (Germany))
05nsbhw27https://ror.org/05nsbhw27 ROR identifier (05nsbhw27, Children's Hospital of Eastern Ontario)
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03czfpz43https://ror.org/03czfpz43 ROR identifier (03czfpz43, Emory University)
018906e22https://ror.org/018906e22 ROR identifier (018906e22, Erasmus MC University Medical Center)
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031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
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04rcqnp59https://ror.org/04rcqnp59 ROR identifier (04rcqnp59, Heidelberg University)
024z2rq82https://ror.org/024z2rq82 ROR identifier (024z2rq82, Heinrich Heine University Düsseldorf)
05tr67282https://ror.org/05tr67282 ROR identifier (05tr67282, Hôpital Necker-Enfants Malades)
013vzz882https://ror.org/013vzz882 ROR identifier (013vzz882, Indraprastha Apollo Hospital)
04ty7jx71https://ror.org/04ty7jx71 ROR identifier (04ty7jx71, Kalawati Saran Children's Hospital)
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00yhnba62https://ror.org/00yhnba62 ROR identifier (00yhnba62, Qatar University)
05mw4gk09https://ror.org/05mw4gk09 ROR identifier (05mw4gk09, Rebecca Sieff Hospital)
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01km6p862https://ror.org/01km6p862 ROR identifier (01km6p862, United Arab Emirates University)
04mz5ra38https://ror.org/04mz5ra38 ROR identifier (04mz5ra38, University Duisburg-Essen)
013czdx64https://ror.org/013czdx64 ROR identifier (013czdx642, University Hospital Heidelberg)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
05ahcwz21https://ror.org/05ahcwz21 ROR identifier (05ahcwz21, University Medical Center Utrecht)
011r6gp69https://ror.org/011r6gp69 ROR identifier (011r6gp69, University of Algiers Benyoucef Benkhedda)
04dkp9463https://ror.org/04dkp9463 ROR identifier (04dkp9463, University of Amsterdam)
043mz5j54https://ror.org/043mz5j54 ROR identifier (043mz5j54, University of California, San Francisco)
00rcxh774https://ror.org/00rcxh774 ROR identifier (00rcxh774, University of Cologne)
01y9bpm73https://ror.org/01y9bpm73 ROR identifier (01y9bpm73, University of Göttingen)
017zqws13https://ror.org/017zqws13 ROR identifier (017zqws13, University of Minnesota)
051mrsz47https://ror.org/051mrsz47 ROR identifier (051mrsz47, University of Skovde)
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)
05v5hg569https://ror.org/05v5hg569 ROR identifier (05v5hg569, Weill Cornell Medical College in Qatar)
SCR_014199https://scicrunch.org/resolver/SCR_014199 SciCrunch identifier (RRID:SCR_014199, Adobe Photoshop)
SCR_027225https://scicrunch.org/resolver/SCR_027225 SciCrunch identifier (RRID:SCR_027225, Andor Dragonfly 600 system)
SCR_018163https://scicrunch.org/resolver/SCR_018163 SciCrunch identifier (RRID:SCR_018163, Black Zen software)
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_014224https://scicrunch.org/resolver/SCR_014224 SciCrunch identifier (RRID:SCR_014224, Phenix)
SCR_026165https://scicrunch.org/resolver/SCR_026165 SciCrunch identifier (RRID:SCR_026165, VarSome)
SCR_020925https://scicrunch.org/resolver/SCR_020925 SciCrunch identifier (RRID:SCR_020925, Zeiss LSM 880 with Airyscan Confocal Laser Scanning Microscope)
onlineli...2.docxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0001-SupplementaryFiles1-2.docx Supplemental material
goeseek.gwdguser.de/studies/266https://goeseek.gwdguser.de/studies/266 Supplemental material (goeseek study)
onlineli...3.xlsxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0002-SupplementaryFile3.xlsx Supplemental material (table)
onlineli...4.xlsxhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0003-SupplementaryFile4.xlsx Supplemental material (table)
onlineli...e5.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0004-SupplementaryFile5.tif Supplemental material (figure)
onlineli...e6.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0005-SupplementaryFile6.tif Supplemental material (figure)
onlineli...e7.tifhttps://onlinelibrary.wiley.com/action/downloadSupplement?doi=10.1002%2Fana.78013&file=ana78013-sup-0006-SupplementaryFile7.tif Supplemental material (figure)
mbexc.de...onism/https://mbexc.de/mutations-in-the-key-autophagy-tethering-factor-epg5-link-neurodevelopmental-and-neurodegenerative-disorders-including-early-onset-parkinsonism/ Website entry (mbexc.de)