1. Startpage
  2. Johannes Gutenberg-Universität Mainz
  3. DFG-491381577-G
Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-8568
Full metadata record
DC FieldValueLanguage
dc.contributor.authorZhang, Li-
dc.contributor.authorDietsche, Felicia-
dc.contributor.authorSeitaj, Bruno-
dc.contributor.authorRojas-Charry, Liliana-
dc.contributor.authorLatchman, Nadina-
dc.contributor.authorTomar, Dhanendra-
dc.contributor.authorWüst, Rob C. I.-
dc.contributor.authorNickel, Alexander-
dc.contributor.authorFrauenknecht, Katrin B. M.-
dc.contributor.authorSchoser, Benedikt-
dc.contributor.authorSchumann, Sven-
dc.contributor.authorSchmeisser, Michael J.-
dc.contributor.authorBerg, Johannes vom-
dc.contributor.authorBuch, Thorsten-
dc.contributor.authorFinger, Stefanie-
dc.contributor.authorWenzel, Philip-
dc.contributor.authorMaack, Christoph-
dc.contributor.authorElrod, John W.-
dc.contributor.authorParys, Jan B.-
dc.contributor.authorBultynck, Geert-
dc.contributor.authorMethner, Axel-
dc.date.accessioned2023-01-13T11:06:06Z-
dc.date.available2023-01-13T11:06:06Z-
dc.date.issued2022-
dc.identifier.urihttps://openscience.ub.uni-mainz.de/handle/20.500.12030/8584-
dc.description.abstractIon fluxes across the inner mitochondrial membrane control mitochondrial volume, energy production, and apoptosis. TMBIM5, a highly conserved protein with homology to putative pH-dependent ion channels, is involved in the maintenance of mitochondrial cristae architecture, ATP production, and apoptosis. Here, we demonstrate that overexpressed TMBIM5 can mediate mitochondrial calcium uptake. Under steady-state conditions, loss of TMBIM5 results in increased potassium and reduced proton levels in the mitochondrial matrix caused by attenuated exchange of these ions. To identify the in vivo consequences of TMBIM5 dysfunction, we generated mice carrying a mutation in the channel pore. These mutant mice display increased embryonic or perinatal lethality and a skeletal myopathy which strongly correlates with tissue-specific disruption of cristae architecture, early opening of the mitochondrial permeability transition pore, reduced calcium uptake capability, and mitochondrial swelling. Our results demonstrate that TMBIM5 is an essential and important part of the mitochondrial ion transport system machinery with particular importance for embryonic development and muscle function.en_GB
dc.description.sponsorshipGefördert durch die Deutsche Forschungsgemeinschaft (DFG) - Projektnummer 491381577de
dc.language.isoengde
dc.rightsCC BY*
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/*
dc.subject.ddc610 Medizinde_DE
dc.subject.ddc610 Medical sciencesen_GB
dc.titleTMBIM5 loss of function alters mitochondrial matrix ion homeostasis and causes a skeletal myopathyen_GB
dc.typeZeitschriftenaufsatzde
dc.identifier.doihttp://doi.org/10.25358/openscience-8568-
jgu.type.contenttypeScientific articlede
jgu.type.dinitypearticleen_GB
jgu.type.versionPublished versionde
jgu.type.resourceTextde
jgu.organisation.departmentFB 04 Medizinde
jgu.organisation.number2700-
jgu.organisation.nameJohannes Gutenberg-Universität Mainz-
jgu.rights.accessrightsopenAccess-
jgu.journal.titleLife science alliancede
jgu.journal.volume5de
jgu.journal.issue10de
jgu.pages.alternativee202201478de
jgu.publisher.year2022-
jgu.publisher.nameEMBO Pressde
jgu.publisher.placeHeidelbergde
jgu.publisher.issn2575-1077de
jgu.organisation.placeMainz-
jgu.subject.ddccode610de
jgu.publisher.doi10.26508/lsa.202201478de
jgu.organisation.rorhttps://ror.org/023b0x485-
jgu.subject.dfgLebenswissenschaftende
Appears in collections:DFG-491381577-G

Files in This Item:
  File Description SizeFormat
Thumbnail
tmbim5_loss_of_function_alter-20230112134600421.pdf4.49 MBAdobe PDFView/Open
Show simple item record