| Property |
Value |
| Working Groups |
RG Cyganek, 
RG Wollnik |
| Subproject |
None |
| Open Access |
Yes |
| Publication Type |
Journal Article |
| Peer Reviewed |
Yes |
| PMID |
40131364 |
| DOI |
10.1172/jci.insight.173484 |
| Publication Year |
2025 |
| Title |
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis |
| Journal |
JCI Insight |
| eISSN |
2379-3708 |
| URL |
https://doi.org/10.1172/jci.insight.173484 |
| Issue |
9 |
| Volume |
10 |
| Journal Abbreviation |
JCI Insight |
| Authors |
Bögershausen N, Cavdarli B, Nagai TH, Milev MP, Wolff A, Mehranfar M, Schmidt J, Choudhary D, Gutiérrez-Gutiérrez Ó, Cyganek L, Saint-Dic D, Arne Zibat A, Köhrer K, Wollenweber TE, Wieczorek D, Altmüller J, Borodina T, Kaçar D, Haliloğlu G, Li Y, Thiel C, Sacher M, Knapik EW, Yigit G, Wollnik B |
| First Author |
Bögershausen N |
| Last Author |
Wollnik B |
External Resources
65264https://www.addgene.org/65264 Addgene identifier (65264, reused)
insight....er.pdfhttps://insight.jci.org/articles/view/173484/version/2/high-res-pdf/render.pdf Article fulltext
2/148565http://resolver.sub.uni-goettingen.de/purl?2/148565 GRO.publications identifier
SCV005627764https://www.ncbi.nlm.nih.gov/clinvar/variation/SCV005627764 NCBI clinvar (SCV005627764)
9606https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=9606 NCBI taxonomy (human, Homo sapiens)
7955https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=7955 NCBI taxonomy (zebrafish, Danio rerio)
616294https://www.omim.org/entry/616294 OMIM identifier (616294, COLE-CARPENTER SYNDROME 2; CLCRP2)
0000-0003-4300-8224https://orcid.org/0000-0003-4300-8224 ORCID identifier (Nina Bögershausen)
0000-0002-0953-6210https://orcid.org/0000-0002-0953-6210 ORCID identifier (Büsranur Cavdarli)
0000-0001-9664-2785https://orcid.org/0000-0001-9664-2785 ORCID identifier (Taylor Hanta Nagai)
0000-0002-3354-1634https://orcid.org/0000-0002-3354-1634 ORCID identifier (Miroslav P. Milev)
0000-0003-2262-9056https://orcid.org/0000-0003-2262-9056 ORCID identifier (Alexander Wolff)
0000-0002-6843-0862https://orcid.org/0000-0002-6843-0862 ORCID identifier (Mahsa Mehranfar)
0000-0002-5942-2924https://orcid.org/0000-0002-5942-2924 ORCID identifier (Julia Schmidt)
0000-0002-8657-6005https://orcid.org/0000-0002-8657-6005 ORCID identifier (Dharmendra Choudhary)
0000-0001-9120-1382https://orcid.org/0000-0001-9120-1382 ORCID identifier (Lukas Cyganek)
0000-0001-9328-7108https://orcid.org/0000-0001-9328-7108 ORCID identifier (Djenann Saint-Dic)
0000-0002-0837-3050https://orcid.org/0000-0002-0837-3050 ORCID identifier (Arne Zibat)
0000-0003-3644-2022https://orcid.org/0000-0003-3644-2022 ORCID identifier (Karl Köhrer)
0000-0001-7953-9903https://orcid.org/0000-0001-7953-9903 ORCID identifier (Tassilo Erik Wollenweber)
0000-0003-2812-6492https://orcid.org/0000-0003-2812-6492 ORCID identifier (Dagmar Wieczorek)
0000-0003-4372-1521https://orcid.org/0000-0003-4372-1521 ORCID identifier (Janine Altmüller)
0000-0002-6978-016Xhttps://orcid.org/0000-0002-6978-016X ORCID identifier (Tatiana Borodina)
0000-0003-2926-5064https://orcid.org/0000-0003-2926-5064 ORCID identifier (Michael Sacher)
0000-0002-2977-3619https://orcid.org/0000-0002-2977-3619 ORCID identifier (Ela W. Knapik)
0000-0003-2777-0198https://orcid.org/0000-0003-2777-0198 ORCID identifier (Gökhan Yigit)
0000-0003-2589-0364https://orcid.org/0000-0003-2589-0364 ORCID identifier (Bernd Wollnik)
1/780https://mbexc.uni-goettingen.de/archive/1/780 Research Data Archive (supplemental material)
033fqnp11https://ror.org/033fqnp11 ROR identifier (033fqnp11, Ankara Bilkent City Hospital)
05ryemn72https://ror.org/05ryemn72 ROR identifier (05ryemn72, Ankara Yıldırım Beyazıt University)
0493xsw21https://ror.org/0493xsw21 ROR identifier (0493xsw21, Berlin Institute of Health at Charité - Universitätsmedizin Berlin)
0420zvk78https://ror.org/0420zvk78 ROR identifier (0420zvk78, Concordia University)
006k2kk72https://ror.org/006k2kk72 ROR identifier (006k2kk72, Düsseldorf University Hospital)
01s1h3j07https://ror.org/01s1h3j07 ROR identifier (01s1h3j07, Fraunhofer Institute for Translational Medicine and Pharmacology)
031t5w623https://ror.org/031t5w623 ROR identifier (031t5w623, German Centre for Cardiovascular Research)
04kwvgz42https://ror.org/04kwvgz42 ROR identifier (04kwvgz42, Hacettepe University)
038t36y30https://ror.org/038t36y30 ROR identifier (038t36y30, Heidelberg University)
04p5ggc03https://ror.org/04p5ggc03 ROR identifier (04p5ggc03, Max Delbrück Center for Molecular Medicine)
01pxwe438https://ror.org/01pxwe438 ROR identifier (01pxwe438, McGill University)
05xy1nn52https://ror.org/05xy1nn52 ROR identifier (05xy1nn52, Multiscale Bioimaging)
021ft0n22https://ror.org/021ft0n22 ROR identifier (021ft0n22, University Medical Center Göttingen)
02vm5rt34https://ror.org/02vm5rt34 ROR identifier (02vm5rt34, Vanderbilt University)
SCR_018361https://scicrunch.org/resolver/SCR_018361 SciCrunch identifier (RRID:SCR_018361, Biorender)
SCR_016884https://scicrunch.org/resolver/SCR_016884 SciCrunch identifier (RRID:SCR_016884, clusterProfiler)
SCR_002338https://scicrunch.org/resolver/SCR_002338 SciCrunch identifier (RRID:SCR_002338, dbSNP)
SCR_006552https://scicrunch.org/resolver/SCR_006552 SciCrunch identifier (RRID:SCR_006552, DECIPHER)
SCR_012802https://scicrunch.org/resolver/SCR_012802 SciCrunch identifier (RRID:SCR_012802, edgeR)
SCR_002344https://scicrunch.org/resolver/SCR_002344 SciCrunch identifier (RRID:SCR_002344, Ensembl)
SCR_014964https://scicrunch.org/resolver/SCR_014964 SciCrunch identifier (RRID:SCR_014964, Genome Aggregation Database)
SCR_002798https://scicrunch.org/resolver/SCR_002798 SciCrunch identifier (RRID:SCR_002798, GraphPad Prism)
SCR_001888https://scicrunch.org/resolver/SCR_001888 SciCrunch identifier (RRID:SCR_001888, HGMD)
SCR_007027https://scicrunch.org/resolver/SCR_007027 SciCrunch identifier (RRID:SCR_007027, HPRD - Human Protein Reference Database)
SCR_016387https://scicrunch.org/resolver/SCR_016387 SciCrunch identifier (RRID:SCR_016387, Illumina NovaSeq 6000 Sequencing System)
SCR_024569https://scicrunch.org/resolver/SCR_024569 SciCrunch identifier (RRID:SCR_024569, Illumina NovaSeq X)
SCR_012773https://scicrunch.org/resolver/SCR_012773 SciCrunch identifier (RRID:SCR_012773, KEGG)
SCR_004726https://scicrunch.org/resolver/SCR_004726 SciCrunch identifier (RRID:SCR_004726, Pfam)
SCR_004846https://scicrunch.org/resolver/SCR_004846 SciCrunch identifier (RRID:SCR_004846, PubMed)
SCR_001905https://scicrunch.org/resolver/SCR_001905 SciCrunch identifier (RRID:SCR_001905, R Project for Statistical Computing)
SCR_013027https://scicrunch.org/resolver/SCR_013027 SciCrunch identifier (RRID:SCR_013027, RSEM)
SCR_015899https://scicrunch.org/resolver/SCR_015899 SciCrunch identifier (RRID:SCR_015899, STAR)
SCR_005780https://scicrunch.org/resolver/SCR_005780 SciCrunch identifier (RRID:SCR_005780, UCSC Genome Browser)
SCR_002380https://scicrunch.org/resolver/SCR_002380 SciCrunch identifier (RRID:SCR_002380, UniProt)
insight....nder/1https://insight.jci.org/articles/view/173484/sd/pdf/render/1 Supplemental material
insight....nder/5https://insight.jci.org/articles/view/173484/sd/pdf/render/5 Supplemental material (figure)
goeseek.gwdguser.de/studies/336https://goeseek.gwdguser.de/studies/336 Supplemental material (goeseek study)
df6sxcke...1.xlsxhttps://df6sxcketz7bb.cloudfront.net/manuscripts/173000/173484/jci.insight.173484.sdd1.xlsx Supplemental material (table)
df6sxcke...2.xlsxhttps://df6sxcketz7bb.cloudfront.net/manuscripts/173000/173484/jci.insight.173484.sdd2.xlsx Supplemental material (table)
df6sxcke...3.xlsxhttps://df6sxcketz7bb.cloudfront.net/manuscripts/173000/173484/jci.insight.173484.sdd3.xlsx Supplemental material (table)
df6sxcke...l.xlsxhttps://df6sxcketz7bb.cloudfront.net/manuscripts/173000/173484/jci.insight.173484.sdval.xlsx Supplemental material (table)
mbexc.de...eisis/https://mbexc.de/sec24c-deficiency-causes-trafficking-and-glycosylation-abnormalities-in-an-epileptic-encephalopathy-with-cataracts-and-dyserythropoeisis/ Website entry (mbexc.de)
Linked Antibodies
| PID |
AG |
Type |
Antigen symbol |
Antibody Registry ID |
Name |
| primary-0629 |
|
primary |
MYH1E |
AB_2147781 |
MF 20 antibody |
| primary-1913 |
|
primary |
TBA4A |
AB_609894 |
Anti-Acetylated Tubulin antibody, Mouse monoclonal |
| secondary-1914 |
|
secondary |
|
AB_2535778 |
Goat anti-Mouse IgG2b Cross-Adsorbed Secondary Antibody, Alexa Fluor™ 488 |
| secondary-1915 |
|
secondary |
|
AB_2535783 |
Goat anti-Mouse IgG2b Cross-Adsorbed Secondary Antibody, Alexa Fluor™ 555 |