Publikationen

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 . PMID: 35370765 ; PMCID: PMC8965613. 

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, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. PMID: 35149593; PMCID: PMC8970462.

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 Oct;92(4):1026-1033. doi: 10.1038/s41390-021-01899-4. Epub 2022 Feb 1. PMID: 35102300; PMCID: PMC9586864.

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. doi: 10.3389/fphys.2021.715485. PMID: 34349672; PMCID: PMC8326905.

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, de Baaij 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 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. PMID: 33811157; PMCID: PMC8259640.

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. Epub 2020 Jan 17. PMID: 32299681.

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. Epub 2020 Feb 15. PMID: 32062759.

Storch U, Forst AL, Pardatscher F, Erdogmus S, Philipp M, Gregoritza M, Mederos Y Schnitzler M, Gudermann T. Dynamic NHERF interaction with TRPC4/5 proteins is required for channel gating by diacylglycerol. Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):E37-E46. doi: 10.1073/pnas.1612263114. Epub 2016 Dec 19. PMID: 27994151; PMCID: PMC5224389.

Forst AL, Olteanu VS, Mollet G, Wlodkowski T, Schaefer F, Dietrich A, Reiser J, Gudermann T, Mederos y Schnitzler M, Storch U. Podocyte Purinergic P2X4 Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization. J Am Soc Nephrol. 2016 Mar;27(3):848-62. doi: 10.1681/ASN.2014111144. Epub 2015 Jul 9. PMID: 26160898; PMCID: PMC4769195.