56 Publikationen

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  • [56]
    2022 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2969198
    Stoeger, T., et al., 2022. Aging is associated with a systemic length-associated transcriptome imbalance. Nature Aging, 2(12), p 1191-1206.
    PUB | DOI | WoS
     
  • [55]
    2021 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2959493 OA
    Donkervoort, S., et al., 2021. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Molecular Medicine , : e13787.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [54]
    2020 | Zeitschriftenaufsatz | E-Veröff. vor dem Druck | PUB-ID: 2948754
    Saminathan, A., et al., 2020. A DNA-based voltmeter for organelles. Nature Nanotechnology.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [53]
    2019 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2936923
    Heybrock, S., et al., 2019. Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export. Nature Communications, 10(1): 3521.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [52]
    2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2931407 OA
    Strigli, A., et al., 2018. Doxorubicin induces caspase-mediated proteolysis of KV7.1. Communications Biology, 1(1): 155.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [51]
    2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2932410
    Donkervoort, S., et al., 2018. Recessive mutations in BET1 and GOSR2 establish Q-SNARE Golgi-vesicle-transport genes as a cause for congenital muscular dystrophy with epilepsy. NEUROMUSCULAR DISORDERS, 28(Suppl. 2): S30.
    PUB | DOI | WoS
     
  • [50]
    2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953333 OA
    Conrad, K.S., et al., 2017. Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies. Nature Communications, 8(1): 1908.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [49]
    2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953334
    Valdez, C., et al., 2017. Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients. Human Molecular Genetics, 26(24), p 4861-4872.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [48]
    2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916109 OA
    Rujano, M.A., et al., 2017. Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects. JOURNAL OF EXPERIMENTAL MEDICINE, 214(12), p 3707-3729.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [47]
    2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916411
    Völker, J.M., et al., 2017. 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, 10(12), p 1391-1398.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [46]
    2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953335
    Zheng, J., et al., 2016. Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators. Journal of Medicinal Chemistry, 59(18), p 8508-8520.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [45]
    2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2913169
    Dibbens, L., et al., 2016. SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. EPILEPTIC DISORDERS, 18(S2), p S63-S72.
    PUB | DOI | WoS
     
  • [44]
    2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2903027
    Zunke, F., et al., 2016. 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, 113(14), p 3791-3796.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [43]
    2016 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2904109
    Kook, S., et al., 2016. 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, 291(16), p 8414-8427.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [42]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2901299
    Agsten, M., et al., 2015. BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (I-Ks). Journal of Molecular and Cellular Cardiology, 89(pt b), p 335-348.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [41]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2731234
    Hessler, S., et al., 2015. beta-Secretase BACE1 Regulates Hippocampal and Reconstituted M-Currents in a beta-Subunit-Like Fashion. Journal of Neuroscience, 35(8), p 3298-3311.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [40]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2731248
    Peters, J., et al., 2015. 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, 457(3), p 334-340.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [39]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2901039
    Blanz, J., et al., 2015. Mannose 6-phosphate-independent Lysosomal Sorting of Limp-2. Traffic, 16(10), p 1127-1136.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [38]
    2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2759802
    Kissing, S., et al., 2015. Vacuolar ATPase in Phagosome-Lysosome Fusion. Journal of Biological Chemistry, 290(22), p 14166-14180.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [37]
    2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2671368
    Lemke, J.R., et al., 2014. GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy. Annals of Neurology, 75(1), p 147-154.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [36]
    2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2660866
    Gaspar, P., et al., 2014. Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis. The Journal of Lipid Research, 55(1), p 138-145.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [35]
    2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2694992
    Rosendahl, A., et al., 2014. Increased expression of (pro)renin receptor does not cause hypertension or cardiac and renal fibrosis in mice. Laboratory Investigation, 94(8), p 863-872.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [34]
    2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2707698
    Rothaug, M., et al., 2014. LIMP-2 expression is critical for beta-glucocerebrosidase activity and alpha-synuclein clearance. Proceedings of the National Academy of Sciences, 111(43), p 15573-15578.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [33]
    2014 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2681867
    Schwarz, J., et al., 2014. Polo-like Kinase 2, a Novel ADAM17 Signaling Component, Regulates Tumor Necrosis Factor similar to Ectodomain Shedding. Journal of Biological Chemistry, 289(5), p 3080-3093.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [32]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953336
    Smith, K.R., et al., 2013. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics, 22(7), p 1417-1423.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [31]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953337
    Schwake, M., Schröder, B., & Saftig, P., 2013. Lysosomal Membrane Proteins and Their Central Role in Physiology. Traffic, 14(7), p 739-748.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [30]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953338
    Schmid, J., et al., 2013. 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, 465(6), p 895-905.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [29]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953339
    Boehlen, A., et al., 2013. The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential. British Journal of Pharmacology, 168(5), p 1182-1200.
    PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [28]
    2013 | Sammelwerksbeitrag | Veröffentlicht | PUB-ID: 2953341
    Schwake, M., & Saftig, P., 2013. Lysosomal Membrane Defects. In A. Mehta & B. Winchester, eds. Lysosomal Storage Disorders. A Practical Guide. Oxford: Wiley-Blackwell, pp. 131-136.
    PUB | DOI | Download (ext.)
     
  • [27]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625613
    Lemke, J.R., et al., 2013. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nature Genetics, 45(9), p 1067-1072.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [26]
    2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2645175
    Neculai, D., et al., 2013. Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36. Nature, 504(7478), p 172-176.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [25]
    2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953340
    Zachos, C., et al., 2012. A Critical Histidine Residue Within LIMP-2 Mediates pH Sensitive Binding to Its Ligand β-Glucocerebrosidase. Traffic, 13(8), p 1113-1123.
    PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [24]
    2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953342
    Chadha, P.S., et al., 2012. Pharmacological dissection of Kv7.1 channels in systemic and pulmonary arteries. British Journal of Pharmacology, 166(4), p 1377-1387.
    PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [23]
    2012 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953343
    Prox, J., et al., 2012. Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10. Cellular and Molecular Life Sciences, 69(17), p 2919-2932.
    PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [22]
    2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953344
    Corbett, M.A., et al., 2011. A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia. The American Journal of Human Genetics, 88(5), p 657-663.
    PUB | DOI | Download (ext.) | WoS | PubMed | Europe PMC
     
  • [21]
    2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953345
    Valkova, C., et al., 2011. Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled α-subunits. Proceedings of the National Academy of Sciences, 108(2), p 621-625.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [20]
    2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953346
    Desmond, M.J., et al., 2011. Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2. American Journal of Physiology-Renal Physiology, 300(6), p F1437-F1447.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [19]
    2010 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953347
    Blanz, J., et al., 2010. 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, 19(4), p 563-572.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [18]
    2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953348
    Lange, W., et al., 2009. Refinement of the Binding Site and Mode of Action of the Anticonvulsant Retigabine on KCNQ K Channels. Molecular Pharmacology, 75(2), p 272-280.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [17]
    2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953349
    Yeung, S.Y.M., et al., 2008. Bimodal effects of the K 7 channel activator retigabine on vascular K+ currents. British Journal of Pharmacology, 155(1), p 62-72.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [16]
    2008 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953350
    Yeung, S.Y.M., et al., 2008. Expression profile and characterisation of a truncated KCNQ5 splice variant. Biochemical and Biophysical Research Communications, 371(4), p 741-746.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [15]
    2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953351
    Yamasaki, R., et al., 2007. 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, 35(4), p 573-584.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [14]
    2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953352
    Reczek, D., et al., 2007. LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase. Cell, 131(4), p 770-783.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [13]
    2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953353
    Schroen, B., et al., 2007. 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, 204(5), p 1227-1235.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [12]
    2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953354
    Wehling, C., et al., 2007. Self-assembly of the isolated KCNQ2 subunit interaction domain. FEBS Letters, 581(8), p 1594-1598.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [11]
    2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953358
    Schwake, M., 2006. Structural Determinants of M-Type KCNQ (Kv7) K+ Channel Assembly. Journal of Neuroscience, 26(14), p 3757-3766.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [10]
    2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953355
    Knipper, M., et al., 2006. 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, 576(1), p 73-86.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [9]
    2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953356
    Caeyenberghs, K., et al., 2006. Multivariate neurocognitive and emotional profile of a mannosidosis murine model for therapy assessment. Neurobiology of Disease, 23(2), p 422-432.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [8]
    2006 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953357
    Pachnio, A., et al., 2006. Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation. Bone Marrow Transplantation, 38(2), p 157-167.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [7]
    2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953361
    Dominguez, D., et al., 2005. Phenotypic and Biochemical Analyses of BACE1- and BACE2-deficient Mice. Journal of Biological Chemistry, 280(35), p 30797-30806.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [6]
    2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953360
    D'Hooge, R., et al., 2005. Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human  α-Mannosidosis. Journal of Neuroscience, 25(28), p 6539-6549.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [5]
    2005 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953359
    Schenzer, A., et al., 2005. Molecular Determinants of KCNQ (Kv7) K+ Channel Sensitivity to the Anticonvulsant Retigabine. Journal of Neuroscience, 25(20), p 5051-5060.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [4]
    2003 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953362
    Schwake, M., Jentsch, T.J., & Friedrich, T., 2003. A carboxy‐terminal domain determines the subunit specificity of KCNQ K+ channel assembly. EMBO reports, 4(1), p 76-81.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [3]
    2001 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953363 OA
    Schwake, M., Friedrich, T., & Jentsch, T.J., 2001. An Internalization Signal in ClC-5, an Endosomal Cl−Channel Mutated in Dent's Disease. Journal of Biological Chemistry, 276(15), p 12049-12054.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     
  • [2]
    2000 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953364
    Piwon, N., et al., 2000. ClC-5 Cl--channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature, 408(6810), p 369-373.
    PUB | DOI | WoS | PubMed | Europe PMC
     
  • [1]
    2000 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2953365 OA
    Schwake, M., et al., 2000. Surface Expression and Single Channel Properties of KCNQ2/KCNQ3, M-type K+ Channels Involved in Epilepsy. Journal of Biological Chemistry, 275(18), p 13343-13348.
    PUB | PDF | DOI | WoS | PubMed | Europe PMC
     

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