56 Publikationen
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2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2948754Saminathan A, Devany J, Veetil AT, et al. A DNA-based voltmeter for organelles. Nature Nanotechnology. 2020.PUB | DOI | WoS | PubMed | Europe PMC
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2019 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2936923Heybrock S, Kanerva K, Meng Y, et al. Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export. Nature Communications. 2019;10(1): 3521.PUB | DOI | WoS | PubMed | Europe PMC
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2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410Donkervoort S, Hu Y, Shieh P, et al. Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy. NEUROMUSCULAR DISORDERS. 2018;28(Suppl. 2): S30.PUB | DOI | WoS
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953333Conrad KS, Cheng T-W, Ysselstein D, et al. Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies. Nature Communications. 2017;8(1): 1908.PUB | PDF | DOI | WoS | PubMed | Europe PMC
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953334Valdez C, Wong YC, Schwake M, Bu G, Wszolek ZK, Krainc D. Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients. Human Molecular Genetics. 2017;26(24):4861-4872.PUB | DOI | WoS | PubMed | Europe PMC
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2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411Völker JM, Dergai M, Abriata LA, et al. Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. DISEASE MODELS & MECHANISMS. 2017;10(12):1391-1398.PUB | DOI | WoS | PubMed | Europe PMC
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2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953335Zheng J, Chen L, Schwake M, Silverman RB, Krainc D. Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators. Journal of Medicinal Chemistry. 2016;59(18):8508-8520.PUB | DOI | WoS | PubMed | Europe PMC
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2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2903027Zunke F, Andresen L, Wesseler S, et al. Characterization of the complex formed by beta-glucocerebrosidase and the lysosomal integral membrane protein type-2. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2016;113(14):3791-3796.PUB | DOI | WoS | PubMed | Europe PMC
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2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2904109Kook S, Wang P, Young LR, et al. Impaired Lysosomal Integral Membrane Protein 2-dependent Peroxiredoxin 6 Delivery to Lamellar Bodies Accounts for Altered Alveolar Phospholipid Content in Adaptor Protein-3-deficient pearl Mice. JOURNAL OF BIOLOGICAL CHEMISTRY. 2016;291(16):8414-8427.PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2901299Agsten M, Hessler S, Lehnert S, et al. BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (I-Ks). Journal of Molecular and Cellular Cardiology. 2015;89(pt b):335-348.PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2731234Hessler S, Zheng F, Hartmann S, et al. beta-Secretase BACE1 Regulates Hippocampal and Reconstituted M-Currents in a beta-Subunit-Like Fashion. Journal of Neuroscience. 2015;35(8):3298-3311.PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2731248Peters J, Rittger A, Weisner R, et al. Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease. Biochemical and Biophysical Research Communications. 2015;457(3):334-340.PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2901039Blanz J, Zunke F, Markmann S, et al. Mannose 6-phosphate-independent Lysosomal Sorting of Limp-2. Traffic. 2015;16(10):1127-1136.PUB | DOI | WoS | PubMed | Europe PMC
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2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2759802Kissing S, Hermsen C, Repnik U, et al. Vacuolar ATPase in Phagosome-Lysosome Fusion. Journal of Biological Chemistry. 2015;290(22):14166-14180.PUB | DOI | WoS | PubMed | Europe PMC
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2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2671368Lemke JR, Hendrickx R, Geider K, et al. GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology. 2014;75(1):147-154.PUB | DOI | WoS | PubMed | Europe PMC
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2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2660866Gaspar P, Kallemeijn WW, Strijland A, et al. Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis. The Journal of Lipid Research. 2014;55(1):138-145.PUB | DOI | WoS | PubMed | Europe PMC
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2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2694992Rosendahl A, Niemann G, Lange S, et al. Increased expression of (pro)renin receptor does not cause hypertension or cardiac and renal fibrosis in mice. Laboratory Investigation. 2014;94(8):863-872.PUB | DOI | WoS | PubMed | Europe PMC
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2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2707698Rothaug M, Zunke F, Mazzulli JR, et al. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences. 2014;111(43):15573-15578.PUB | DOI | WoS | PubMed | Europe PMC
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2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2681867Schwarz J, Schmidt S, Will O, et al. Polo-like Kinase 2, a Novel ADAM17 Signaling Component, Regulates Tumor Necrosis Factor similar to Ectodomain Shedding. Journal of Biological Chemistry. 2014;289(5):3080-3093.PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953336Smith KR, Dahl H-HM, Canafoglia L, et al. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 2013;22(7):1417-1423.PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953337Schwake M, Schröder B, Saftig P. Lysosomal Membrane Proteins and Their Central Role in Physiology. Traffic. 2013;14(7):739-748.PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953338Schmid J, Oelbe M, Saftig P, Schwake M, Schweda F. Parallel regulation of renin and lysosomal integral membrane protein 2 in renin-producing cells: further evidence for a lysosomal nature of renin secretory vesicles. Pflügers Archiv - European Journal of Physiology. 2013;465(6):895-905.PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953339Boehlen A, Schwake M, Dost R, et al. The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential. British Journal of Pharmacology. 2013;168(5):1182-1200.PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2013 | Sammelwerksbeitrag | Veröffentlicht | PUB-ID: 2953341Schwake M, Saftig P. Lysosomal Membrane Defects. In: Mehta A, Winchester B, eds. Lysosomal Storage Disorders. A Practical Guide. Oxford: Wiley-Blackwell; 2013: 131-136.PUB | DOI | Download (ext.)
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625613Lemke JR, Lal D, Reinthaler EM, et al. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics. 2013;45(9):1067-1072.PUB | DOI | WoS | PubMed | Europe PMC
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2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2645175Neculai D, Schwake M, Ravichandran M, et al. Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36. Nature. 2013;504(7478):172-176.PUB | DOI | WoS | PubMed | Europe PMC
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2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953340Zachos C, Blanz J, Saftig P, Schwake M. A Critical Histidine Residue Within LIMP-2 Mediates pH Sensitive Binding to Its Ligand β-Glucocerebrosidase. Traffic. 2012;13(8):1113-1123.PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953342Chadha PS, Zunke F, Davis AJ, et al. Pharmacological dissection of Kv7.1 channels in systemic and pulmonary arteries. British Journal of Pharmacology. 2012;166(4):1377-1387.PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953343Prox J, Willenbrock M, Weber S, et al. Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10. Cellular and Molecular Life Sciences. 2012;69(17):2919-2932.PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953344Corbett MA, Schwake M, Bahlo M, et al. A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia. The American Journal of Human Genetics. 2011;88(5):657-663.PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
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2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953345Valkova C, Albrizio M, Roder IV, et al. Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled α-subunits. Proceedings of the National Academy of Sciences. 2011;108(2):621-625.PUB | DOI | WoS | PubMed | Europe PMC
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2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953346Desmond MJ, Lee D, Fraser SA, et al. Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2. American Journal of Physiology-Renal Physiology. 2011;300(6):F1437-F1447.PUB | DOI | WoS | PubMed | Europe PMC
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2010 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953347Blanz J, Groth J, Zachos C, Wehling C, Saftig P, Schwake M. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand β-glucocerebrosidase. Human Molecular Genetics. 2010;19(4):563-572.PUB | DOI | WoS | PubMed | Europe PMC
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2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953348Lange W, Geißendörfer J, Schenzer A, et al. Refinement of the Binding Site and Mode of Action of the Anticonvulsant Retigabine on KCNQ K Channels. Molecular Pharmacology. 2009;75(2):272-280.PUB | DOI | WoS | PubMed | Europe PMC
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2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953349Yeung SYM, Schwake M, Pucovský V, Greenwood IA. Bimodal effects of the K 7 channel activator retigabine on vascular K+ currents. British Journal of Pharmacology. 2008;155(1):62-72.PUB | DOI | WoS | PubMed | Europe PMC
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2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953350Yeung SYM, Lange W, Schwake M, Greenwood IA. Expression profile and characterisation of a truncated KCNQ5 splice variant. Biochemical and Biophysical Research Communications. 2008;371(4):741-746.PUB | DOI | WoS | PubMed | Europe PMC
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2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953351Yamasaki R, Zhang J, Koshiishi I, et al. Involvement of lysosomal storage-induced p38 MAP kinase activation in the overproduction of nitric oxide by microglia in cathepsin D-deficient mice. Molecular and Cellular Neuroscience. 2007;35(4):573-584.PUB | DOI | WoS | PubMed | Europe PMC
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2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953352Reczek D, Schwake M, Schröder J, et al. LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase. Cell. 2007;131(4):770-783.PUB | DOI | WoS | PubMed | Europe PMC
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2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953353Schroen B, Leenders JJ, van Erk A, et al. Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy. Journal of Experimental Medicine. 2007;204(5):1227-1235.PUB | DOI | WoS | PubMed | Europe PMC
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2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953354Wehling C, Beimgraben C, Gelhaus C, et al. Self-assembly of the isolated KCNQ2 subunit interaction domain. FEBS Letters. 2007;581(8):1594-1598.PUB | DOI | WoS | PubMed | Europe PMC
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2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953358Schwake M. Structural Determinants of M-Type KCNQ (Kv7) K+ Channel Assembly. Journal of Neuroscience. 2006;26(14):3757-3766.PUB | DOI | WoS | PubMed | Europe PMC
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2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953355Knipper M, Claussen C, Rüttiger L, et al. Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis. The Journal of Physiology. 2006;576(1):73-86.PUB | DOI | WoS | PubMed | Europe PMC
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2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953356Caeyenberghs K, Balschun D, Roces DP, Schwake M, Saftig P, D'Hooge R. Multivariate neurocognitive and emotional profile of a mannosidosis murine model for therapy assessment. Neurobiology of Disease. 2006;23(2):422-432.PUB | DOI | WoS | PubMed | Europe PMC
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2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953357Pachnio A, Dietrich S, Klapper W, et al. Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation. Bone Marrow Transplantation. 2006;38(2):157-167.PUB | DOI | WoS | PubMed | Europe PMC
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2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953361Dominguez D, Tournoy J, Hartmann D, et al. Phenotypic and Biochemical Analyses of BACE1- and BACE2-deficient Mice. Journal of Biological Chemistry. 2005;280(35):30797-30806.PUB | DOI | WoS | PubMed | Europe PMC
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2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953360D'Hooge R, Lüllmann-Rauch R, Beckers T, et al. Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human α-Mannosidosis. Journal of Neuroscience. 2005;25(28):6539-6549.PUB | DOI | WoS | PubMed | Europe PMC
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2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953359Schenzer A, Friedrich T, Pusch M, et al. Molecular Determinants of KCNQ (Kv7) K+ Channel Sensitivity to the Anticonvulsant Retigabine. Journal of Neuroscience. 2005;25(20):5051-5060.PUB | DOI | WoS | PubMed | Europe PMC
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2003 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953362Schwake M, Jentsch TJ, Friedrich T. A carboxy‐terminal domain determines the subunit specificity of KCNQ K+ channel assembly. EMBO reports. 2003;4(1):76-81.PUB | DOI | WoS | PubMed | Europe PMC
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2000 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953364Piwon N, Günther W, Schwake M, Bösl MR, Jentsch TJ. ClC-5 Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature. 2000;408(6810):369-373.PUB | DOI | WoS | PubMed | Europe PMC
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2000 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953365Schwake M, Pusch M, Kharkovets T, Jentsch TJ. Surface Expression and Single Channel Properties of KCNQ2/KCNQ3, M-type K+ Channels Involved in Epilepsy. Journal of Biological Chemistry. 2000;275(18):13343-13348.PUB | PDF | DOI | WoS | PubMed | Europe PMC