The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
- Publikationstyp:
- Zeitschriftenaufsatz
- Metadaten:
-
- Autoren
- Noreen Klein
- Nadine Kümmerer
- Dominika Hobernik
- Dirk Schneider
- Sammlungen
- metadata
- ISSN
- 2211-5463
- Zeitschrift
- FEBS Open Bio
- Schlüsselwörter
- 500 Naturwissenschaften
- 500 Natural sciences and mathematics
- Sprache
- eng
- Paginierung
- Seiten: 640 - 646
- Datum der Veröffentlichung
- 2015
- Herausgeber
- Elsevier on behalf of the Federation of European Biochemical Societies
- Herausgeber URL
- http://dx.doi.org/10.1016/j.fob.2015.07.003
- Datum der Datenerfassung
- 2020
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2020
- Zugang
- Public
- Titel
- The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
- Ausgabe der Zeitschrift
- 5
Datenquelle: METADATA.UB
- Andere Metadatenquellen:
-
- Abstract
- <jats:p>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<jats:italic>nephrogenic diabetes insipidus</jats:italic> 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.</jats:p>
- Autoren
- Noreen Klein
- Nadine Kümmerer
- Dominika Hobernik
- Dirk Schneider
- DOI
- 10.1016/j.fob.2015.07.003
- eISSN
- 2211-5463
- ISSN
- 2211-5463
- Ausgabe der Veröffentlichung
- 1
- Zeitschrift
- FEBS Open Bio
- Sprache
- en
- Online publication date
- 2015
- Paginierung
- 640 - 646
- Datum der Veröffentlichung
- 2015
- Status
- Published
- Herausgeber
- Wiley
- Herausgeber URL
- http://dx.doi.org/10.1016/j.fob.2015.07.003
- Datum der Datenerfassung
- 2023
- Titel
- The AQP2 mutation V71M causes<i>nephrogenic diabetes insipidus</i> in humans but does not impair the function of a bacterial homolog
- Ausgabe der Zeitschrift
- 5
Datenquelle: Crossref
- 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.
- Addresses
- Institut für Pharmazie und Biochemie, Johannes Gutenberg-Universität Mainz, 55128 Mainz, Germany.
- Autoren
- Noreen Klein
- Nadine Kümmerer
- Dominika Hobernik
- Dirk Schneider
- DOI
- 10.1016/j.fob.2015.07.003
- eISSN
- 2211-5463
- Externe Identifier
- PubMed Identifier: 26442203
- PubMed Central ID: PMC4552806
- Funding acknowledgements
- German Chemical Industrial Fund:
- COMATT:
- Stiftung Rheinland-Pfalz für Innovation:
- Open access
- true
- ISSN
- 2211-5463
- Zeitschrift
- FEBS open bio
- Sprache
- eng
- Medium
- Electronic-eCollection
- Online publication date
- 2015
- Open access status
- Open Access
- Paginierung
- 640 - 646
- Datum der Veröffentlichung
- 2015
- Status
- Published
- Publisher licence
- CC BY-NC-ND
- Datum der Datenerfassung
- 2015
- Titel
- The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog.
- Sub types
- research-article
- Journal Article
- Ausgabe der Zeitschrift
- 5
Files
https://europepmc.org/articles/PMC4552806?pdf=render
Datenquelle: Europe PubMed Central
- 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.
- Date of acceptance
- 2015
- Autoren
- Noreen Klein
- Nadine Kümmerer
- Dominika Hobernik
- Dirk Schneider
- Autoren-URL
- https://www.ncbi.nlm.nih.gov/pubmed/26442203
- DOI
- 10.1016/j.fob.2015.07.003
- Externe Identifier
- PubMed Central ID: PMC4552806
- ISSN
- 2211-5463
- Zeitschrift
- FEBS Open Bio
- Schlüsselwörter
- AQP ER, endoplasmic reticulum
- AQP, aquaporin
- AVP, arginine vasopressin
- AVPR2, V2 receptor
- Activity
- Aquaporin
- GlpF
- GlpF, glycerol facilitator
- GpA, glycophorin A
- HM, half-membrane-spanning
- NDI, nephrogenic diabetes insipidus
- Nephrogenic diabetes insipidus
- Protein oligomerization
- TM, transmembrane
- wt, wild-type
- Sprache
- eng
- Country
- England
- Paginierung
- 640 - 646
- PII
- S2211-5463(15)00069-8
- Datum der Veröffentlichung
- 2015
- Status
- Published online
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2015
- Titel
- The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog.
- Sub types
- Journal Article
- Ausgabe der Zeitschrift
- 5
Datenquelle: PubMed
- Author's licence
- CC-BY-NC-ND
- Autoren
- Noreen Klein
- Nadine Kümmerer
- Dominika Hobernik
- Dirk Schneider
- Hosting institution
- Universitätsbibliothek Mainz
- Sammlungen
- DFG-OA-Publizieren (2012 - 2017)
- Resource version
- Published version
- DOI
- 10.1016/j.fob.2015.07.003
- Funding acknowledgements
- DFG, Open Access-Publizieren Universität Mainz / Universitätsmedizin
- File(s) embargoed
- false
- Open access
- true
- ISSN
- 2211-5463
- Zeitschrift
- FEBS Open Bio
- Schlüsselwörter
- 500 Naturwissenschaften
- 500 Natural sciences and mathematics
- Sprache
- eng
- Open access status
- Open Access
- Paginierung
- 640 - 646
- Datum der Veröffentlichung
- 2015
- Public URL
- https://openscience.ub.uni-mainz.de/handle/20.500.12030/7962
- Herausgeber
- Elsevier on behalf of the Federation of European Biochemical Societies
- Herausgeber URL
- http://dx.doi.org/10.1016/j.fob.2015.07.003
- Datum der Datenerfassung
- 2022
- Datum, an dem der Datensatz öffentlich gemacht wurde
- 2022
- Zugang
- Public
- Titel
- The AQP2 mutation V71M causes nephrogenic diabetes insipidus in humans but does not impair the function of a bacterial homolog
- Ausgabe der Zeitschrift
- 5
Files
the_aqp2_mutation_v71m_causes-20220925142606282.pdf
Datenquelle: OPENSCIENCE.UB
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