Gast ::
| Hauptseite > Publikationsdatenbank > Disruption of ClC-3-mediated 2Cl−/H+ exchange leads to behavioural deficits and thalamic atrophy > print |
| Hauptseite > Publikationsdatenbank > Disruption of ClC-3-mediated 2Cl−/H+ exchange leads to behavioural deficits and thalamic atrophy > print |
| 001 | 1047356 | ||
| 005 | 20251030202116.0 | ||
| 024 | 7 | _ | |a 10.1038/s41598-025-19757-2 |2 doi |
| 024 | 7 | _ | |a 10.34734/FZJ-2025-04252 |2 datacite_doi |
| 037 | _ | _ | |a FZJ-2025-04252 |
| 082 | _ | _ | |a 600 |
| 100 | 1 | _ | |a Balduin, Carina |0 P:(DE-Juel1)176837 |b 0 |u fzj |
| 245 | _ | _ | |a Disruption of ClC-3-mediated 2Cl−/H+ exchange leads to behavioural deficits and thalamic atrophy |
| 260 | _ | _ | |a [London] |c 2025 |b Springer Nature |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1761827758_23646 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 500 | _ | _ | |a Open Access funding enabled and organized by Projekt DEAL. |
| 520 | _ | _ | |a CLCN3 encodes ClC-3, an endosomal 2Cl⁻/H⁺ exchanger, with pathogenic variants causing aneurodevelopmental condition marked by developmental delays, intellectual disability, seizures,hyperactivity, anxiety, and brain and retinal abnormalities. Clcn3−/− mice show hippocampal and retinaldegeneration, recapitulating key symptoms observed in humans. ClC-3 forms homodimers (ClC-3/ClC-3) and heterodimers with ClC-4 (ClC-3/ClC-4), with overlapping brain expression. This suggestsdistinct functional roles for homo- and heterodimeric assemblies and raises the question of which brainregions specifically depend on ClC-3/ClC-3 rather than ClC-3/ClC-4 complexes. Using ex vivo PET traceranalyses, Clcn3−/− and Clcn3td/td mice, we found neurodegeneration in the hippocampus and thalamusof Clcn3−/−, while Clcn3td/td mice showed thalamic degeneration and altered neuronal excitability,including changes in action potential threshold and after hyperpolarization. Clcn3td/td mice carryinga transport-deficient p.E281Q ClC-3 variant that still associates with ClC-4, thereby allowing ClC-4 tobe sorted to endosomes as ClC-4/ClC-3 heterodimers, unlike in the Clcn3−/− model. Clcn3td/td mice alsoexhibited reduced weight, hyperactivity, and motor deficits, reflecting clinical features. Lower ClC-4levels in thalamus predict a predominant thalamic expression of ClC-3/ClC-3 homodimers. Overall,our findings indicate a region-specific function of ClC-3/ClC-3 homodimeric complexes and highlightthe importance of ClC-3 transport activity in thalamic neuron survival, with electrophysiologicaldysfunction likely contributing to neurodegeneration. |
| 536 | _ | _ | |a 5241 - Molecular Information Processing in Cellular Systems (POF4-524) |0 G:(DE-HGF)POF4-5241 |c POF4-524 |f POF IV |x 0 |
| 536 | _ | _ | |a 5253 - Neuroimaging (POF4-525) |0 G:(DE-HGF)POF4-5253 |c POF4-525 |f POF IV |x 1 |
| 588 | _ | _ | |a Dataset connected to CrossRef, Journals: juser.fz-juelich.de |
| 700 | 1 | _ | |a Qi, Guanxiao |0 P:(DE-Juel1)131702 |b 1 |u fzj |
| 700 | 1 | _ | |a Schöneck, Michael |0 P:(DE-Juel1)131792 |b 2 |u fzj |
| 700 | 1 | _ | |a Trinkel, Verena |0 P:(DE-Juel1)169937 |b 3 |
| 700 | 1 | _ | |a Schemmert, Sarah |0 P:(DE-Juel1)165908 |b 4 |u fzj |
| 700 | 1 | _ | |a Guzman, Gustavo A. |0 P:(DE-Juel1)165956 |b 5 |
| 700 | 1 | _ | |a Bungert-Plümke, Stefanie |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Klüssendorf, Malte |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Neumaier, Bernd |0 P:(DE-Juel1)166419 |b 8 |u fzj |
| 700 | 1 | _ | |a Feldmeyer, Dirk |0 P:(DE-Juel1)131680 |b 9 |u fzj |
| 700 | 1 | _ | |a Shah, N. Jon |0 P:(DE-Juel1)131794 |b 10 |u fzj |
| 700 | 1 | _ | |a Stauber, Tobias |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Langen, Karl-Josef |0 P:(DE-Juel1)131777 |b 12 |u fzj |
| 700 | 1 | _ | |a Guzman, Raul E. |0 P:(DE-Juel1)156375 |b 13 |e Corresponding author |u fzj |
| 700 | 1 | _ | |a Willuweit, Antje |0 P:(DE-Juel1)144347 |b 14 |e Corresponding author |u fzj |
| 773 | _ | _ | |a 10.1038/s41598-025-19757-2 |g Vol. 15, no. 1, p. 33326 |0 PERI:(DE-600)2615211-3 |n 1 |p 33326 |t Scientific reports |v 15 |y 2025 |x 2045-2322 |
| 856 | 4 | _ | |u https://juser.fz-juelich.de/record/1047356/files/Scientific_Reports_Bungert_Guzman_09_2025.pdf |y OpenAccess |
| 909 | C | O | |o oai:juser.fz-juelich.de:1047356 |p openaire |p open_access |p VDB |p driver |p dnbdelivery |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 0 |6 P:(DE-Juel1)176837 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 1 |6 P:(DE-Juel1)131702 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 2 |6 P:(DE-Juel1)131792 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 4 |6 P:(DE-Juel1)165908 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 6 |6 P:(DE-HGF)0 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 8 |6 P:(DE-Juel1)166419 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 9 |6 P:(DE-Juel1)131680 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 10 |6 P:(DE-Juel1)131794 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 12 |6 P:(DE-Juel1)131777 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 13 |6 P:(DE-Juel1)156375 |
| 910 | 1 | _ | |a Forschungszentrum Jülich |0 I:(DE-588b)5008462-8 |k FZJ |b 14 |6 P:(DE-Juel1)144347 |
| 913 | 1 | _ | |a DE-HGF |b Key Technologies |l Natural, Artificial and Cognitive Information Processing |1 G:(DE-HGF)POF4-520 |0 G:(DE-HGF)POF4-524 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-500 |4 G:(DE-HGF)POF |v Molecular and Cellular Information Processing |9 G:(DE-HGF)POF4-5241 |x 0 |
| 913 | 1 | _ | |a DE-HGF |b Key Technologies |l Natural, Artificial and Cognitive Information Processing |1 G:(DE-HGF)POF4-520 |0 G:(DE-HGF)POF4-525 |3 G:(DE-HGF)POF4 |2 G:(DE-HGF)POF4-500 |4 G:(DE-HGF)POF |v Decoding Brain Organization and Dysfunction |9 G:(DE-HGF)POF4-5253 |x 1 |
| 914 | 1 | _ | |y 2025 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0200 |2 StatID |b SCOPUS |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0160 |2 StatID |b Essential Science Indicators |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1050 |2 StatID |b BIOSIS Previews |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1190 |2 StatID |b Biological Abstracts |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0600 |2 StatID |b Ebsco Academic Search |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1040 |2 StatID |b Zoological Record |d 2024-12-18 |
| 915 | _ | _ | |a JCR |0 StatID:(DE-HGF)0100 |2 StatID |b SCI REP-UK : 2022 |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0501 |2 StatID |b DOAJ Seal |d 2024-07-29T15:28:26Z |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0500 |2 StatID |b DOAJ |d 2024-07-29T15:28:26Z |
| 915 | _ | _ | |a WoS |0 StatID:(DE-HGF)0113 |2 StatID |b Science Citation Index Expanded |d 2024-12-18 |
| 915 | _ | _ | |a Fees |0 StatID:(DE-HGF)0700 |2 StatID |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0150 |2 StatID |b Web of Science Core Collection |d 2024-12-18 |
| 915 | _ | _ | |a IF < 5 |0 StatID:(DE-HGF)9900 |2 StatID |d 2024-12-18 |
| 915 | _ | _ | |a OpenAccess |0 StatID:(DE-HGF)0510 |2 StatID |
| 915 | _ | _ | |a Peer Review |0 StatID:(DE-HGF)0030 |2 StatID |b ASC |d 2024-12-18 |
| 915 | _ | _ | |a Article Processing Charges |0 StatID:(DE-HGF)0561 |2 StatID |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)1150 |2 StatID |b Current Contents - Physical, Chemical and Earth Sciences |d 2024-12-18 |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0300 |2 StatID |b Medline |d 2024-12-18 |
| 915 | _ | _ | |a Creative Commons Attribution CC BY 4.0 |0 LIC:(DE-HGF)CCBY4 |2 HGFVOC |
| 915 | _ | _ | |a DBCoverage |0 StatID:(DE-HGF)0199 |2 StatID |b Clarivate Analytics Master Journal List |d 2024-12-18 |
| 920 | _ | _ | |l yes |
| 920 | 1 | _ | |0 I:(DE-Juel1)IBI-1-20200312 |k IBI-1 |l Molekular- und Zellphysiologie |x 0 |
| 920 | 1 | _ | |0 I:(DE-Juel1)ETN-20090406 |k ETN |l Projektträger Energie, Technologie, Nachhaltigkeit |x 1 |
| 920 | 1 | _ | |0 I:(DE-Juel1)INM-10-20170113 |k INM-10 |l Jara-Institut Brain structure-function relationships |x 2 |
| 920 | 1 | _ | |0 I:(DE-Juel1)INM-4-20090406 |k INM-4 |l Physik der Medizinischen Bildgebung |x 3 |
| 920 | 1 | _ | |0 I:(DE-Juel1)IBI-7-20200312 |k IBI-7 |l Strukturbiochemie |x 4 |
| 920 | 1 | _ | |0 I:(DE-Juel1)INM-5-20090406 |k INM-5 |l Nuklearchemie |x 5 |
| 980 | _ | _ | |a journal |
| 980 | _ | _ | |a VDB |
| 980 | _ | _ | |a UNRESTRICTED |
| 980 | _ | _ | |a I:(DE-Juel1)IBI-1-20200312 |
| 980 | _ | _ | |a I:(DE-Juel1)ETN-20090406 |
| 980 | _ | _ | |a I:(DE-Juel1)INM-10-20170113 |
| 980 | _ | _ | |a I:(DE-Juel1)INM-4-20090406 |
| 980 | _ | _ | |a I:(DE-Juel1)IBI-7-20200312 |
| 980 | _ | _ | |a I:(DE-Juel1)INM-5-20090406 |
| 980 | 1 | _ | |a FullTexts |
| Library | Collection | CLSMajor | CLSMinor | Language | Author |
|---|