Gutenberg Open Science: The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog

Please use this identifier to cite or link to this item: http://doi.org/10.25358/openscience-7947

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DC Field	Value	Language
dc.contributor.author	Klein, Noreen	-
dc.contributor.author	Kümmerer, Nadine	-
dc.contributor.author	Hobernik, Dominika	-
dc.contributor.author	Schneider, Dirk	-
dc.date.accessioned	2022-10-12T10:03:55Z	-
dc.date.available	2022-10-12T10:03:55Z	-
dc.date.issued	2015	-
dc.identifier.uri	https://openscience.ub.uni-mainz.de/handle/20.500.12030/7962	-
dc.description.abstract	Several point mutations have been identified in human aquaporins, but their effects on the function of the respective aquaporins are mostly enigmatic. We analyzed the impact of the aquaporin 2 mutation V71M, which causes nephrogenic diabetes insipidus in humans, on aquaporin structure and activity, using the bacterial aquaglyceroporin GlpF as a model. Importantly, the sequence and structure around the V71M mutation is highly conserved between aquaporin 2 and GlpF. The V71M mutation neither impairs substrate flux nor oligomerization of the aquaglyceroporin. Therefore, the human aquaporin 2 mutant V71M is most likely active, but cellular trafficking is probably impaired.	en_GB
dc.description.sponsorship	DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin	de
dc.language.iso	eng	de
dc.rights	CC BY-NC-ND	*
dc.rights.uri	https://creativecommons.org/licenses/by-nc-nd/4.0/	*
dc.subject.ddc	500 Naturwissenschaften	de_DE
dc.subject.ddc	500 Natural sciences and mathematics	en_GB
dc.title	The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog	en_GB
dc.type	Zeitschriftenaufsatz	de
dc.identifier.doi	http://doi.org/10.25358/openscience-7947	-
jgu.type.dinitype	article	en_GB
jgu.type.version	Published version	de
jgu.type.resource	Text	de
jgu.organisation.department	FB 09 Chemie, Pharmazie u. Geowissensch.	de
jgu.organisation.number	7950	-
jgu.organisation.name	Johannes Gutenberg-Universität Mainz	-
jgu.rights.accessrights	openAccess	-
jgu.journal.title	FEBS Open Bio	de
jgu.journal.volume	5	de
jgu.pages.start	640	de
jgu.pages.end	646	de
jgu.publisher.year	2015	-
jgu.publisher.name	Elsevier on behalf of the Federation of European Biochemical Societies	de
jgu.publisher.place	Cambridge	de
jgu.publisher.uri	http://dx.doi.org/10.1016/j.fob.2015.07.003	de
jgu.publisher.issn	2211-5463	de
jgu.organisation.place	Mainz	-
jgu.subject.ddccode	500	de
opus.date.modified	2018-09-05T09:10:39Z	-
opus.subject.dfgcode	00-000	-
opus.organisation.string	FB 09: Chemie, Pharmazie und Geowissenschaften: Institut für Pharmazie	de_DE
opus.identifier.opusid	51959	-
opus.institute.number	0908	-
opus.metadataonly	false	-
opus.type.contenttype	Keine	de_DE
opus.type.contenttype	None	en_EN
opus.affiliated	Schneider, Dirk	-
jgu.publisher.doi	10.1016/j.fob.2015.07.003	de
jgu.organisation.ror	https://ror.org/023b0x485	-
Appears in collections:	DFG-OA-Publizieren (2012 - 2017)

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