Sökning: WFRF:(Rutter Guy A.) > Krus Ulrika > Loss of ZnT8 functi...
Fältnamn | Indikatorer | Metadata |
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000 | 06787naa a2200877 4500 | |
001 | oai:lup.lub.lu.se:adea1fb6-d721-4e0f-b08b-85a37539134e | |
003 | SwePub | |
008 | 191103s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/adea1fb6-d721-4e0f-b08b-85a37539134e2 URI |
024 | 7 | a https://doi.org/10.1038/s41588-019-0513-92 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Dwivedi, Om Prakashu University of Helsinki4 aut |
245 | 1 0 | a Loss of ZnT8 function protects against diabetes by enhanced insulin secretion |
264 | c 2019-11-01 | |
264 | 1 | b Springer Science and Business Media LLC,c 2019 |
520 | a A rare loss-of-function allele p.Arg138* in SLC30A8 encoding the zinc transporter 8 (ZnT8), which is enriched in Western Finland, protects against type 2 diabetes (T2D). We recruited relatives of the identified carriers and showed that protection was associated with better insulin secretion due to enhanced glucose responsiveness and proinsulin conversion, particularly when compared with individuals matched for the genotype of a common T2D-risk allele in SLC30A8, p.Arg325. In genome-edited human induced pluripotent stem cell (iPSC)-derived β-like cells, we establish that the p.Arg138* allele results in reduced SLC30A8 expression due to haploinsufficiency. In human β cells, loss of SLC30A8 leads to increased glucose responsiveness and reduced KATP channel function similar to isolated islets from carriers of the T2D-protective allele p.Trp325. These data position ZnT8 as an appealing target for treatment aimed at maintaining insulin secretion capacity in T2D. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
700 | 1 | a Lehtovirta, Mikkou University of Helsinki4 aut |
700 | 1 | a Hastoy, Benoitu University of Oxford4 aut |
700 | 1 | a Chandra, Vikashu University of Helsinki4 aut |
700 | 1 | a Krentz, Nicole A. J.u University of Oxford4 aut |
700 | 1 | a Kleiner, Sandra4 aut |
700 | 1 | a Jain, Deepaku Lund University,Lunds universitet,Antigen presentation,Forskargrupper vid Lunds universitet,Medicinsk proteinvetenskap,Antigen Presentation,Lund University Research Groups,Medical Protein Science4 aut0 (Swepub:lu)med-dji |
700 | 1 | a Richard, Ann-Marieu Pfizer Inc. US4 aut |
700 | 1 | a Abaitua, Fernandou University of Oxford4 aut |
700 | 1 | a Beer, Nicola L.u University of Oxford4 aut |
700 | 1 | a Grotz, Antje4 aut |
700 | 1 | a Prasad, Rashmi B.u Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-rpa |
700 | 1 | a Hansson, Olau Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,University of Helsinki4 aut0 (Swepub:lu)medk-oha |
700 | 1 | a Ahlqvist, Emmau Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)infl-eah |
700 | 1 | a Krus, Ulrikau Lund University,Lunds universitet,Diabetes - öpatofysiologi,Forskargrupper vid Lunds universitet,Diabetes - Islet Patophysiology,Lund University Research Groups4 aut0 (Swepub:lu)medk-ufr |
700 | 1 | a Artner, Isabellau Lund University,Lunds universitet,Stamcellscentrum (SCC),Avdelningen för stamcellsforskning,Institutionen för laboratoriemedicin,Medicinska fakulteten,Endokrin Celldifferentiering,Forskargrupper vid Lunds universitet,Stem Cell Center,Division of stem cell research,Department of Laboratory Medicine,Faculty of Medicine,Endocrine Cell Differentiation and Function,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)med-iba |
700 | 1 | a Suoranta, Anu4 aut |
700 | 1 | a Gomez, Daniel4 aut |
700 | 1 | a Baras, Aris4 aut |
700 | 1 | a Champon, Benoite4 aut |
700 | 1 | a Payne, Anthony J.4 aut |
700 | 1 | a Moralli, Daniela4 aut |
700 | 1 | a Thomsen, Soren K.4 aut |
700 | 1 | a Kramer, Philipp4 aut |
700 | 1 | a Spiliotis, Ioannis4 aut |
700 | 1 | a Ramracheya, Reshma4 aut |
700 | 1 | a Chabosseau, Pauline4 aut |
700 | 1 | a Theodoulou, Andria4 aut |
700 | 1 | a Cheung, Rebecca4 aut |
700 | 1 | a Van De Bunt, Martijn4 aut |
700 | 1 | a Flannick, Jasonu Massachusetts General Hospital,Broad Institute4 aut |
700 | 1 | a Trombetta, Maddalenau University of Verona4 aut |
700 | 1 | a Bonora, Enzo4 aut |
700 | 1 | a Wolheim, Claes B.u Lund University4 aut |
700 | 1 | a Sarelin, Leenau Folkhälsan Research Center4 aut |
700 | 1 | a Bonadonna, Riccardo C.4 aut |
700 | 1 | a Rorsman, Patriku University of Oxford4 aut0 (Swepub:lu)mphy-pro |
700 | 1 | a Davies, Benjamin4 aut |
700 | 1 | a Brosnan, Julia4 aut |
700 | 1 | a Mccarthy, Mark I.4 aut |
700 | 1 | a Otonkoski, Timo4 aut |
700 | 1 | a Lagerstedt, Jens O.u Lund University,Lunds universitet,Medicinsk proteinvetenskap,Forskargrupper vid Lunds universitet,Medical Protein Science,Lund University Research Groups4 aut0 (Swepub:lu)med-jls |
700 | 1 | a Rutter, Guy A.4 aut |
700 | 1 | a Gromada, Jesper4 aut |
700 | 1 | a Gloyn, Anna L.4 aut |
700 | 1 | a Tuomi, Tiinamaijau Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups4 aut0 (Swepub:lu)ti8736tu |
700 | 1 | a Groop, Leifu Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,University of Helsinki,Skåne University Hospital4 aut0 (Swepub:lu)endo-lgr |
710 | 2 | a University of Helsinkib University of Oxford4 org |
773 | 0 | t Nature Geneticsd : Springer Science and Business Media LLCg , s. 1-22q <1-22x 1061-4036x 1546-1718 |
856 | 4 | u http://dx.doi.org/10.1038/s41588-019-0513-9y FULLTEXT |
856 | 4 | u https://europepmc.org/articles/pmc6858874?pdf=render |
856 | 4 8 | u https://lup.lub.lu.se/record/adea1fb6-d721-4e0f-b08b-85a37539134e |
856 | 4 8 | u https://doi.org/10.1038/s41588-019-0513-9 |
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