Publikationen

2024

Plain A, Kn?dl L, Tegtmeier I, Bandulik S, Warth R.
The ex vivo perfused mouse adrenal gland - a new model to study aldosterone secretion.
Pflugers Arch. 2024; online first.
https://doi.org/10.1007/s00424-024-02950-z
Video zur Methode: http://doi.org/10.5283/epub.57910
Pubmed

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2023

Rege J, Bandulik S, Nanba K, Kosmann C, Blinder AR, Plain A, Vats P, Kumar-Sinha C, Lerario AM, Else T, Yamazaki Y, Satoh F, Sasano H, Giordano TJ, Williams TA, Reincke M, Turcu AF, Udager AM, Warth R, Rainey WE.
Somatic SLC30A1 mutations altering zinc transporter ZnT1 cause aldosterone-producing adenomas and primary aldosteronism.
Nat Genet. 2023 Sep 14. doi: 10.1038/s41588-023-01498-5. Epub ahead of print.
Pubmed

Stanzick KJ, Stark KJ, Gorski M, Sch?del J, Krüger R, Kronenberg F, Warth R, Heid IM, Winkler TW.
KidneyGPS: a user-friendly web application to help prioritize kidney function genes and variants based on evidence from genome-wide association studies.
BMC Bioinformatics. 2023 Sep 21;24(1):355. doi: 10.1186/s12859-023-05472-0.
Pubmed

Meindl K, Issler N, Afonso S, Cebrian-Serrano A, Müller K, Sterner C, Othmen H, Tegtmeier I, Witzgall R, Klootwijk E, Davies B, Kleta R, Warth R.
A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.
Front Cell Dev Biol. 2023 Oct 12;11:1240558. doi: 10.3389/fcell.2023.1240558.
Pubmed

Beggs MR, Young K, Plain A, O'Neill DD, Raza A, Flockerzi V, Dimke H, Alexander RT.
Maternal Epidermal Growth Factor Promotes Neonatal Claudin-2 Dependent Increases in Small Intestinal Calcium Permeability.
Function (Oxf). 2023 Jun 27;4(5):zqad033. doi: 10.1093/function/zqad033.
Pubmed

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2022

Lo J, Forst AL, Warth R, Zdebik AA.
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Front Physiol. 2022 Mar 15;13:852674. doi: 10.3389/fphys.2022.852674.
Pubmed

Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, B?ckenhauer D, Kleta R, Falik Zaccai TC, Warth R.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol. 2022, 33(4):732-745. doi: 10.1681/ASN.2021101312.
Pubmed
Editorial

Neubauer J, Forst AL, Warth R, Both CP, Haas C, Thomas J.
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Pediatr Res. 2022 Feb 1. doi: 10.1038/s41390-021-01899-4.
Pubmed

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2021

Sch?ller E, Marks J, Marchand V, Bruckmann A, Powell CA, Reichold M, Mutti CD, Dettmer K, Feederle R, Hüttelmaier S, Helm M, Oefner P, Minczuk M, Motorin Y, Hafner M, Meister G.
Balancing of mitochondrial translation through METTL8-mediated m3C modification of mitochondrial tRNAs.
Mol Cell. 2021 Dec 2;81(23):4810-4825.
Pubmed

Forst AL, Reichold M, Kleta R, Warth R.
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
Front Physiol. 2021 Jul 19;12:715485.
Pubmed

Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, deBaaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol. 2021,?32(6):1498-1512. doi: 10.1681/ASN.2020111587
Pubmed

Beggs MR, Young K, Pan W, O'Neill DD, Saurette M, Plain A, Rievaj J, Doschak MR, Cordat E, Dimke H, Alexander RT.
Claudin-2 and claudin-12 form independent, complementary pores required to maintain calcium homeostasis.
Proc Natl Acad Sci U S A. 2021 Nov 30;118(48):e2111247118. doi: 10.1073/pnas.2111247118.
Pubmed

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2020

Gürtler F, Jordan K, Tegtmeier I, Herold J, Stindl J, Warth R, Bandulik S
Cellular pathophysiology of mutant voltage-dependent Ca2+ channel CACNA1H in primary aldosteronism
Endocrinology. 2020 Oct 1;161(10):bqaa135. doi: 10.1210/endocr/bqaa135.
Pubmed

Morin M, Forst AL, Pérez-Torre P, Jiménez-Escrig A, Barca-Tierno V, García-Galloway E, Warth R, Lopez-Sendón Moreno JL, Moreno-Pelayo MA
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Neurogenetics. 2020 Apr;21(2):135-143, doi: 10.1007/s10048-020-00605-6.
Pubmed

Penton D, Vohra T, Banki E, Wengi A, Weigert M, Forst AL, Bandulik S, Warth R, Loffing J.
Collecting system-specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet-induced hypokalemia.
Kidney Int. 2020 Jun;97(6):1208-1218, doi: 10.1016/j.kint.2019.12.016.
Pubmed

Plain A, Pan W, O'Neill D, Ure M, Beggs MR, Farhan M, Dimke H, Cordat E, Alexander RT.
Claudin-12 Knockout Mice Demonstrate Reduced Proximal Tubule Calcium Permeability.
Int J Mol Sci. 2020 Mar 18;21(6):2074. doi: 10.3390/ijms21062074.
Pubmed

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2019

Bandulik S, Barhanin J, Warth R.
Potassium channels in adrenocortical cells.
Current Opinion in Endocrine and Metabolic Research. 2019;8:1-8; doi.org/10.1016/j.coemr.2019.06.004
Journal Link

Wiebe SA, Plain A, Pan W, O'Neill D, Braam B, Alexander RT.
NHE8 attenuates Ca2+ influx into NRK cells and the proximal tubule epithelium.
Am J Physiol Renal Physiol. 2019 Aug 1;317(2):F240-F253. doi: 10.1152/ajprenal.00329.2018.
Pubmed

2018

Schlingmann KP*, Bandulik S*, Mammen C*, Tarailo-Graovac M*, Holm R, Baumann M, K?nig J, Lee JJY, Dr?gem?ller B, Imminger K, Beck B, Altmüller J, Thiele H, Waldegger S, van’t Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B*, Bockenhauer D*, Konrad M*.
Germline de-novo mutations in ATP1A1 cause renal hypomagnesemia,
refractory seizures and intellectual disability.
Am J Hum Genet. 2018 Nov 1;103(5):808-816.
Pubmed

Reichold M*, Klootwijk ED*, Reinders J*, Otto EA*, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O’Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe C, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA*, Unwin RJ*, Warth R*, Kleta R*.
Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure.
JASN 2018 Jul;29(7):1849-1858.
"Paper of the Month – Juni 2018" der Deutschen Physiologischen Gesellschaft
"Paper of the Month - 05/2018" der Anatomischen?Gesellschaft
Research Highlight Nature Reviews Nephrology
Editorial?JASN
Comment in Ann Transl Med.
Pubmed

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2017

Buehler PK, Bleiler D, Tegtmeier I, Heitzmann D, Both C, Georgieff M, Warth R, Thomas J.
Abnormal respiration under hyperoxia in TASK-1/3 potassium channel double knockout mice.
Respir Physiol Neurobiol. 2017 Oct., 244:17-25.
Pubmed

Bandulik S.
Of channels and pumps: Different ways to boost the aldosterone?
Acta Physiol (Oxf). 2017 Jul;220(3):332-360.
Pubmed

Jungbauer S, Bühler P, Neubauer J, Haas C, Heitzmann D, Tegtmeier I, Sterner C, Barhanin J, Georgieff M, Warth R, Thomas J.
Sex-dependent differences in the in vivo respiratory phenotype of the TASK-1 potassium channel knockout mouse
Respir Physiol Neurobiol. 2017 Nov;245:13-28.
Pubmed

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2016

Assmann N, Dettmer K, Simbuerger JM, Broeker C, Nuernberger N, Renner K, Courtneidge H, Klootwijk ED, Duerkop A, Hall A, Kleta R, Oefner PJ, Reichold M, Reinders J.
Renal Fanconi syndrome is caused by a mistargeting-based mitochondriopathy.
Cell Rep. 2016 May 17;15(7):1423-9.
Pubmed

Tauber P, Aichinger B, Christ C, Stindl J, Rhayem Y, Beuschlein F, Warth R, Bandulik S.
Cellular pathophysiology of an adrenal adenoma-associated mutant of the plasma membrane Ca2+ ATPase ATP2B3.
Endocrinology. 2016 Jun;157(6):2489-99.
Pubmed

Lalli E, Barhanin J, Zennaro MC, Warth R.
Local control of aldosterone production and primary aldosteronism.
Trends in Endocrinology and Metabolism. 2016 Mar;27(3):123-31.
Pubmed

Heitzmann D, Buehler P, Schweda F, Georgieff M, Warth R, Thomas J.
The in vivo respiratory phenotype of the adenosine A1 receptor knockout mouse.
Respiratory Physiology & Neurobiology. 2016 Feb;222:16-28.
Pubmed
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2015

Stindl J, Tauber P, Sterner C, Tegtmeier I, Warth R, Bandulik S.
Pathogenesis of adrenal aldosterone producing adenomas carrying mutations of the Na+/K+-ATPase.
Endocrinology. 2015 Dec;156(12):4582-91.
Pubmed

Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D.
Renal Fanconi syndrome: taking a proximal look at the nephron.
Nephrol Dial Transplant. 2015 Sep;30(9):1456-60.
Pubmed

Machura K, Neubauer B, Müller H, Tauber P, Kurtz A, Kurtz L.
Connexin 40 is dispensable for vascular renin cell recruitment but is indispensable for vascular baroreceptor control of renin secretion.
Pflugers Arch. 2015 Aug;467(8):1825-34.
Pubmed

Bandulik S, Tauber P, Lalli E, Barhanin J, Warth R.
Two-pore domain potassium channels in the adrenal cortex.
Pflugers Arch. 2015 May;467(5):1027-42.
Pubmed

Monticone S, Bandulik S, Stindl J, Zilbermint M, Dedov I, Mulatero P, Allgaeuer M, Richard Lee CC, Stratakis CA, Ann Williams T, Tiulpakov A.
A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical 'salt bridge' Kir3.4 residue.
J Clin Endocrinol Metab. 2015 Jan;100(1):E114-8.
Pubmed

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2014