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LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidaseStructure of LIMP-2 provides functional insights with implications for SR-BI and CD36A carboxy-terminal domain determines the subunit specificity of KCNQ K+ channel assembly.Lysosomal membrane proteins and their central role in physiologySurface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsyLysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophyTubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosisLIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearanceCathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosisGRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.Vacuolar ATPase in phagosome-lysosome fusion.The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential.Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.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.Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase ModulatorsLysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation.Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.Polo-like kinase 2, a novel ADAM17 signaling component, regulates tumor necrosis factor α ectodomain shedding.Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysisBimodal effects of the Kv7 channel activator retigabine on vascular K+ currentsMutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.Phenotypic and biochemical analyses of BACE1- and BACE2-deficient mice.Expression profile and characterisation of a truncated KCNQ5 splice variant.Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10.Involvement of lysosomal storage-induced p38 MAP kinase activation in the overproduction of nitric oxide by microglia in cathepsin D-deficient mice.β-Secretase BACE1 regulates hippocampal and reconstituted M-currents in a β-subunit-like fashion.Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis.Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.An internalization signal in ClC-5, an endosomal Cl-channel mutated in dent's disease.
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hulumtues
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Michael Schwake
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Michael Schwake
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Michael Schwake
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Michael Schwake
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Michael Schwake
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Michael Schwake
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Michael Schwake
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Michael Schwake
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P106
P1153
6506019944
P21
P31
P496
0000-0002-4173-2166