Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Anna-Lena Forst"'
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption. The autosomal recessive s
Externí odkaz:
https://doaj.org/article/a2f1ca8e23cd4b56bc2c23ec5a659c73
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
The mitochondria of the proximal tubule are essential for providing energy in this nephron segment, whose ATP generation is almost exclusively oxygen dependent. In addition, mitochondria are involved in a variety of metabolic processes and complex si
Externí odkaz:
https://doaj.org/article/2d9ae1f8b8a345c6b3257a0d46db60c7
Autor:
Detlef Bockenhauer, Aparna Renigunta, Bertrand Knebelmann, Anselm A. Zdebik, Huguette Debaix, Jennifer Lake, Olivier Devuyst, Dorien Lugtenberg, Martin Konrad, Jeroen H. F. de Baaij, Richard Warth, Anna-Lena Forst, Stephanie Tellier, Pascal Houillier, Daan H H M Viering, Sinthura Mahendran, Velko Atanasov, Alexander Staruschenko, Tahsin Stefan Barakat, Valentine Gillion, Stefanie Weber, Ewout J. Hoorn, Christoph Rudin, Oleg Palygin, Caroline Rousset-Rouvière, Nathalie Godefroid, Rosa Vargas-Poussou, Alice S. Brooks, Karl P. Schlingmann, Vijay Renigunta, Robert Kleta
Publikováno v:
Journal of the American Society of Nephrology, 32(6), 1498-1512. American Society of Nephrology
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 1498-1512
Journal of the American Society of Nephrology, 32, 6, pp. 1498-1512
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 1498-1512
Journal of the American Society of Nephrology, 32, 6, pp. 1498-1512
Background: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recyc
Autor:
Eszter Banki, Maria Weigert, Johannes Loffing, Twinkle Vohra, Anna-Lena Forst, Agnieszka Wengi, David Penton, Sascha Bandulik, Richard Warth
Publikováno v:
Kidney International. 97:1208-1218
The basolateral potassium channel KCNJ10 (Kir4.1), is expressed in the renal distal convoluted tubule and controls the activity of the thiazide-sensitive sodium chloride cotransporter. Loss-of-function mutations of KCNJ10 cause EAST/SeSAME syndrome w
Autor:
Anna-Lena Forst, Matías Morín, M A Moreno-Pelayo, Jose Luis López-Sendón Moreno, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Paula Pérez-Torre, Eva García-Galloway, Richard Warth
Publikováno v:
neurogenetics. 21:135-143
KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensori
Autor:
Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth
Publikováno v:
J Am Soc Nephrol
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, 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, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
Issler, N, Afonso, S, Weissman, I, Jordan, K, Cebrian-Serrano, A, Meindl, K, Dahlke, E, Tziridis, K, Yan, G, Robles-López, J M, Tabernero, L, Patel, V, Kesselheim, A, Klootwijk, E D, Stanescu, H C, Dumitriu, S, Iancu, D, Tekman, M, Mozere, M, Jaureguiberry, G, Outtandy, P, Russell, C, Forst, A-L, Sterner, C, Heinl, E-S, Othmen, H, Tegtmeier, I, Reichold, M, Schiessl, I M, 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, T C & Warth, R 2022, ' A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness ', Journal of the American Society of Nephrology : JASN, vol. 33, no. 4, pp. 732-745 . https://doi.org/10.1681/ASN.2021101312
BACKGROUND: The endocytic reabsorption of proteins in the proximal tubule requires a complex machinery and defects can lead to tubular proteinuria. The precise mechanisms of endocytosis and processing of receptors and cargo are incompletely understoo
Autor:
Manuel Gregoritza, Maximilian Philipp, Ursula Storch, Michael Mederos y Schnitzler, Serap Erdogmus, Thomas Gudermann, Franziska Pardatscher, Anna-Lena Forst
Publikováno v:
Proc. Natl. Acad. Sci. U.S.A. 114, E37-E46 (2017)
The activation mechanism of the classical transient receptor potential channels TRPC4 and -5 via the G(q/11) protein-phospholipase C (PLC) signaling pathway has remained elusive so far. In contrast to all other TRPC channels, the PLC product diacylgl
Autor:
Changli Wei, Wenjun Ju, Anna-Lena Forst, Tobias B. Huber, Andreas D. Kistler, Suma Yaddanapudi, Clemens C. Möller, Zhijie Xiao, Jochen Reiser, Tobias Lohmüller, Maria Pia Rastaldi, Christian Faul, Mario Schiffer, Jan Flesche, Markus Bitzer, Jaakko Patrakka, Mehmet M. Altintas, Isabel Fernandez, Karl Tryggvason, Florian Grahammer, Andrey S. Shaw, Phillip Ruiz, Vasil Peev, Thomas Reinheckel, Sanja Sever, Changkyu Gu, Jing Li
Publikováno v:
Europe PubMed Central
The Journal of clinical investigation
The Journal of clinical investigation
Kidney podocytes are highly differentiated epithelial cells that form interdigitating foot processes with bridging slit diaphragms (SDs) that regulate renal ultrafiltration. Podocyte injury results in proteinuric kidney disease, and genetic deletion
Autor:
Bob Glaudemans, Hanka Venselaar, Anna-Lena Forst, René J. M. Bindels, Jenny van der Wijst, Anil V. Nair, Joost G. J. Hoenderop
Publikováno v:
Journal of Biological Chemistry, 285, 1, pp. 171-8
Journal of Biological Chemistry, 285, 171-8
Journal of Biological Chemistry, 285, 171-8
Contains fulltext : 88549.pdf (Publisher’s version ) (Open Access) Mutations in the voltage-gated K(+) channel Kv1.1 have been linked with a mixed phenotype of episodic ataxia and/or myokymia. Recently, we presented autosomal dominant hypomagnesemi
Autor:
Vlad Sorin Olteanu, Alexander Dietrich, Anna-Lena Forst, Jochen Reiser, Thomas Gudermann, Géraldine Mollet, Ursula Storch, Franz Schaefer, Michael Mederos y Schnitzler, Tanja Wlodkowski
Publikováno v:
Journal of the American Society of Nephrology : JASN. 27(3)
Podocytes are specialized, highly differentiated epithelial cells in the kidney glomerulus that are exposed to glomerular capillary pressure and possible increases in mechanical load. The proteins sensing mechanical forces in podocytes are unconfirme