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Author Details

Michael Schwake
Northwestern University
2000
57
33
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37118543Aging is associated with a systemic length-associated transcriptome imbalance.Nat Aging2022
34779586BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy.EMBO Mol Med2021
33539324Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.J Clin Invest2021
31387993Lysosomal integral membrane protein-2 (LIMP-2/SCARB2) is involved in lysosomal cholesterol export.Nat Commun2019
31804465LRRK2 kinase activity regulates lysosomal glucocerebrosidase in neurons derived from Parkinson's disease patients.Nat Commun2019
29676907β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site.J Am Chem Soc2018
30302399Doxorubicin induces caspase-mediated proteolysis of KV7.1.Commun Biol2018
28982678Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.Dis Model Mech2017
29036611Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.Hum Mol Genet2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
29199275Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.Nat Commun2017
27001828Characterization of the complex formed by β-glucocerebrosidase and the lysosomal integral membrane protein type-2.Proc Natl Acad Sci U S A2016
27582254SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome.Epileptic Disord2016
27598312Design and Synthesis of Potent Quinazolines as Selective β-Glucocerebrosidase Modulators.J Med Chem2016
26907692Impaired 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.J Biol Chem2016
25576872Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.Biochem Biophys Res Commun2015
26454161BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs).J Mol Cell Cardiol2015
26219725Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.Traffic2015
25903133Vacuolar ATPase in phagosome-lysosome fusion.J Biol Chem2015
25716831β-Secretase BACE1 regulates hippocampal and reconstituted M-currents in a β-subunit-like fashion.J Neurosci2015
24212238Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis.J Lipid Res2014
25316793LIMP-2 expression is critical for β-glucocerebrosidase activity and α-synuclein clearance.Proc Natl Acad Sci U S A2014
25046440Increased expression of (pro)renin receptor does not cause hypertension or cardiac and renal fibrosis in mice.Lab Invest2014
24338472Polo-like kinase 2, a novel ADAM17 signaling component, regulates tumor necrosis factor α ectodomain shedding.J Biol Chem2014
24272827GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.Ann Neurol2014
23297359Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis.Hum Mol Genet2013
24162852Structure of LIMP-2 provides functional insights with implications for SR-BI and CD36.Nature2013
23933819Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.Nat Genet2013
23387372Lysosomal membrane proteins and their central role in physiology.Traffic2013
23176257The new KCNQ2 activator 4-Chlor-N-(6-chlor-pyridin-3-yl)-benzamid displays anticonvulsant potential.Br J Pharmacol2013
23229015Parallel regulation of renin and lysosomal integral membrane protein 2 in renin-producing cells: further evidence for a lysosomal nature of renin secretory vesicles.Pflugers Arch2013
22251082Pharmacological dissection of K(v)7.1 channels in systemic and pulmonary arteries.Br J Pharmacol2012
22537104A critical histidine residue within LIMP-2 mediates pH sensitive binding to its ligand β-glucocerebrosidase.Traffic2012
22446748Tetraspanin15 regulates cellular trafficking and activity of the ectodomain sheddase ADAM10.Cell Mol Life Sci2012
21187406Sorting receptor Rer1 controls surface expression of muscle acetylcholine receptors by ER retention of unassembled alpha-subunits.Proc Natl Acad Sci U S A2011
21549339A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.Am J Hum Genet2011
21429972Tubular proteinuria in mice and humans lacking the intrinsic lysosomal protein SCARB2/Limp-2.Am J Physiol Renal Physiol2011
19933215Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.Hum Mol Genet2010
19015229Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.Mol Pharmacol2009
18457656Expression profile and characterisation of a truncated KCNQ5 splice variant.Biochem Biophys Res Commun2008
18536747Bimodal effects of the Kv7 channel activator retigabine on vascular K+ currents.Br J Pharmacol2008
17485520Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy.J Exp Med2007
18022370LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase.Cell2007
17570679Involvement of lysosomal storage-induced p38 MAP kinase activation in the overproduction of nitric oxide by microglia in cathepsin D-deficient mice.Mol Cell Neurosci2007
17519950Molecular expression and pharmacological identification of a role for K(v)7 channels in murine vascular reactivity.Br J Pharmacol2007
17382933Self-assembly of the isolated KCNQ2 subunit interaction domain.FEBS Lett2007
16597729Structural determinants of M-type KCNQ (Kv7) K+ channel assembly.J Neurosci2006
16766199Multivariate neurocognitive and emotional profile of a mannosidosis murine model for therapy assessment.Neurobiol Dis2006
16820783Proliferation-based T-cell selection for immunotherapy and graft-versus-host-disease prophylaxis in the context of bone marrow transplantation.Bone Marrow Transplant2006
16901941Deafness in LIMP2-deficient mice due to early loss of the potassium channel KCNQ1/KCNE1 in marginal cells of the stria vascularis.J Physiol2006
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Collaborators

Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 2
Matteo Dal Peraro
Institute of Bioengineering
Co-authored papers 2
Melanie Bahlo
Co-authored papers 2
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Co-authored papers 1
Andre Franke
Institute of Clinical Molecular Biology, Kiel University
Co-authored papers 1
Virginie Hauser
California Institute of Technology
Co-authored papers 1
Matias Simons
Institute of Human Genetics, University Hospital Heidelberg
Co-authored papers 1
Sandrine Duvet
University Lille, CNRS
Co-authored papers 1
Esther M Maier
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
Co-authored papers 1
Peter Freisinger
Hospital Reutlingen
Co-authored papers 1
Sirano Dhe-Paganon
Dana-Farber Cancer Institute
Co-authored papers 1
Nevan J Krogan (CM4AI)
University of California San Francisco
Co-authored papers 1
Johanna A J??hn
Christian-Albrechts-University of Kiel
Co-authored papers 1
Fran??ois Foulquier
CNRS, Universite de Lille
Co-authored papers 1
Erika Souche
Center for Human Genetics
Co-authored papers 1
Andrew J Cole
Massachusetts General Hospital, Harvard Medical School
Co-authored papers 1
Irenaeus F M de Coo
Unit Clinical Genomics, Maastricht University
Co-authored papers 1
Joerg Heeren
Co-authored papers 1
Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
Co-authored papers 1
Susana Nobre
Centro Hospitalar e Universitario de Coimbra
Co-authored papers 1
Beryl B Cummings
Co-authored papers 1
Stefan Herms
Institute of Human Genetics, University of Bonn
Co-authored papers 1
Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 1
Neil L Kelleher
Northwestern University
Co-authored papers 1
Magda Cannata Serio
INSERM UMR3, Institut IMAGINE
Co-authored papers 1
Maria Clara Guida
Sanford-Burnham-Prebys Medical Discovery Institute
Co-authored papers 1
Julien H Park
Umea University
Co-authored papers 1
Thomas D Bird
University of Washington School of Medicine
Co-authored papers 1
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
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Release 1.2