TPP2 mutation associated with sterile brain inflammation mimicking MS
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Article Information
- Received March 28, 2018
- Accepted in final form September 26, 2018
- First Published November 13, 2018.
Author Disclosures
- Eva M. Reinthaler, PhD,
- Elisabeth Graf, PhD,
- Tobias Zrzavy, MD,
- Thomas Wieland, PhD,
- Christoph Hotzy, BSc,
- Chantal Kopecky, PhD,
- Sandra Pferschy,
- Christiane Schmied, MD,
- Fritz Leutmezer, MD,
- Mohammad Keilani, MD,
- Christina M. Lill, PhD,
- Sabine Hoffjan, MD,
- Jörg T. Epplen, MD,
- Uwe K. Zettl, MD,
- Michael Hecker,
- Angela Deutschländer, MD,
- Sven G. Meuth, PhD,
- Mamoun Ahram, MD,
- Baha Mustafa, PhD,
- Mohammed El-Khateeb, PhD,
- Carles Vilariño-Güell, PhD,
- A. Dessa Sadovnick, MD,
- Fritz Zimprich, MD, PhD,
- Birgitta Tomkinson, PhD,
- Tim Strom, PhD,
- Wolfgang Kristoferitsch, PhD,
- Hans Lassmann, PhD and
- Alexander Zimprich, PhD
- Eva M. Reinthaler, PhD,
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- Elisabeth Graf, PhD,
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- Tobias Zrzavy, MD,
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- Thomas Wieland, PhD,
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Foundation Medicine Inc, Manager, 1 year
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- Christoph Hotzy, BSc,
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- Chantal Kopecky, PhD,
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- Sandra Pferschy,
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IQVIA
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- Christiane Schmied, MD,
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1. Commercial: Roche Austria GmbH 2. Sanofi-Aventis ?sterreich GmbH
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- Fritz Leutmezer, MD,
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- Mohammad Keilani, MD,
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- Christina M. Lill, PhD,
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Gene, MetaGene
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- Sabine Hoffjan, MD,
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Associate Editor MCP Journal (Elsevier) since 2015
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- Jörg T. Epplen, MD,
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MCP - Molecular and Cellular Probes
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amedes genetics Hannover, Germany
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- Uwe K. Zettl, MD,
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Speakers honoraria and travel grants from Bayer Pharma, Aventis Pharma, TEVA Pharma, Merck-Serono Pharma, Biogen-Idec Pharma.
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- Michael Hecker,
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Dr. Hecker received speaking fees and travel funds from Bayer HealthCare, Biogen, Novartis, and Teva.
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- Angela Deutschländer, MD,
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AD is supported by a gift from Carl Edward Bolch, Jr, and Susan Bass Bolch. AD is supported by the Sol Goldman Charitable Trust.
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Allergan Medical Education grant
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- Sven G. Meuth, PhD,
Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
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Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
PLoS One
(1)Effectivity of specific FXII/FXIIa inhibitors, particularly rHA-Infestin 4 used to treat neuro- inflammatoral diseases (WO 2013/113774 A1 and EP 2 263 110 A1) (2) Diagnosis of a novel autoimmune disease (European patent; 15001186.4 ? 1402) (3)
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Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
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Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
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Sven Meuth receives honoraria for lecturing, and travel expenses for attending meetings from Almirall, Amicus Therapeutics Germany, Bayer Health Care, Biogen, Celgene, Diamed, Genzyme, MedDay Pharmaceuticals, Merck Serono, Novartis, Novo Nordisk, ONO Pharma, Roche, Sanofi- Aventis, Chugai Pharma, QuintilesIMS and Teva. His research is funded by the German Ministry for Education and Research (BMBF), Deutsche Forschungsgesellschaft (DFG), Else Kr?ner Fresenius Foundation, German Academic Exchange Service, Hertie Foundation, Interdisciplinary Center for Clinical Studies (IZKF) Muenster, German Foundation Neurology and Almirall, Amicus Therapeutics Germany, Biogen, Diamed, Fresenius Medical Care, Genzyme, Merck Serono, Novartis, ONO Pharma, Roche, and Teva.
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- Mamoun Ahram, MD,
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8/2015-current Role of androgens in differential profiling of miRNA among breast cancer subtypes. Scientific Research Find, Ministry of Higher Education and Scientific Research, JD 94,700 ($135,285). 10/2015-current Correlation of androgen receptor expression with epithelial-to-mesenchymal transition in breast cancer. Scientific Research Find, Ministry of Higher Education and Scientific Research, JD 80,300 ($114,700).
8/2018-Current Regulation of desmosomal proteins by dihydrotestosterone in the molecular apocrine MDA-MB-453 breast cancer cell line. (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Shahed Al-Arqam. JD 1,500 ($2,100). 5/2018-current The molecular mechanism of the anti- proliferative effect of membrane androgen receptor on breast MDA-MB-453 cells. (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Taghreed Hasheesh. JD 1,500 ($2,100). 12/2017-current The role of dihydrotestosterone in influencing chemosensitivity of triple-negative breast cancer cells by regulating ABCG2 transporter via microRNA: a possible therapeutic strategy. (Doctoral thesis). Deanship of Higher Studies, The University of Jordan. Student: Bayan Momani. JD 3,000 ($4,300). 6/2017-5/2018 The Role of regulator G protein signaling 2 protein in dihydrotestosterone-induced epithelial-to- mesenchymal transition of molecular apocrine MDA-MB-453 breast cancer cell line. (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Dana Al- Safadi. JD 1,500 ($2,100). 6/2017-5/2018 Effect of SNAIL2 in inducing dihydrotestosterone-induced epithelial-mesenchymal transition in MDA-MB-453 cells. (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Mohammad Salah. JD 1,500 ($2,100). 7/2017-07/2018 Does the androgen hormone, dihydrotestosterone, regulate expression of metalloprotease 13 in breast cancer T47D cells via microRNA-148a? (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Nahid Saber. JD 1,500 ($2,100). 7/2017-current Investigating the genotype-phenotype correlation of Familial Mediterranean Fever among Jordanians and cytokine inflammatory biomarkers. (Master's thesis). Deanship of Higher Studies, The University of Jordan. Student: Areen Abdallat. JD 1,500 ($2,100). 6/2017-current Development of an enzymatic fluorometric assay for the diagnosis of Gaucher disease. Deanship of Scientific Research, The University of Jordan, Students: Saffarini S, Soud S, and Al-Ani R (medical students). JD 500 ($700). 6/2017-current Development of an enzymatic assay for the diagnosis of Biotinidase deficiency. Deanship of Scientific Research, The University of Jordan, Students: Adawi M, Dwekat, O, and Zaghloul L (medical students). JD 500 ($700). 2/2017-6/2018 The Cellular and Molecular Effects of Androgen Receptor Agonist, Cl-4AS-1 on Breast Cancer Cells. King Abdullah II Fund for Development (KAFD), Dana Amer and Deema Masarweh (Bachelor?s students). JD 5,000 ($7,000). 9/2015-08/2017 DHT regulation of integrin αv expression in breast cancer cells. Deanship of Scientific Research, The University of Jordan, JD 10,000 ($14,000). 8/2015-06/2017 Role of androgens in miRNA expression in triple negative breast cancer (Doctoral thesis). Student: Nihad Othman (Advisor: Mamoun Ahram, Hana Hammad). JD 3,000 ($4,300). 5/2015-8/2016 MicroRNA expression in pediatric anaplastic ependymomas grade III and normal ependymal cells. King Abdullah II Fund for Development (KAFD), Justin Amarin and Haya Suradi (medical students). JD 5,500 ($7,850). 5/2015-8/2016 MicroRNA profiling in grade II pediatric ependymomas. King Abdullah II Fund for Development (KAFD), Mona Makhamreh and sultan Abdelhamee (medical students). JD 5,500 ($7,850). 3/2015-06/2016 Association of HLA-DRB1*1501 with multiple sclerosis in Jordan. Abdul Hameed Shoman Fund for Supporting Scientific Research, Students: Ghadeer Al-Najjar and Ethar Abu Salameh (medical students). JD 8000 ($11,400). 5/2014-06/2016 Association of CLEC16A with multiple sclerosis in Jordan. Deanship of Scientific Research, The University of Jordan, Students: Hammoudeh H and Shaar A (medical students). JD 500 ($700). 5/2014-5/2015 Investigation of genetic polymorphisms of the intercellular adhesion ?molecule-1 (ICAM-1) among multiple sclerosis patients in Jordan (Master's thesis). Deanship of Higher Studies, The Hashemite University. Student: Baha? Mustapha. JD 500 ($700).
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- Baha Mustafa, PhD,
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- Mohammed El-Khateeb, PhD,
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- Carles Vilariño-Güell, PhD,
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- A. Dessa Sadovnick, MD,
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(1)Biogen, funding for travel to conference
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(1) Consortium of Multiple Sclerosis Centers (CMSC)
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(1) Biogen MA Inc. (2) Novartis Pharmaceuticals Canada Inc. (3) Genzyme Canada Inc. (4) Biogen Idec Inc. (Canada)
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- Fritz Zimprich, MD, PhD,
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Member of the editorial advisory board for the
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- Birgitta Tomkinson, PhD,
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- Tim Strom, PhD,
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Horizon2020, ENSAT-HT This project has received funding from the European Union?s Horizon 2020 research and innovation programme under grant agreement No 633983
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1) FGF23, Kirin Brewery
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- Wolfgang Kristoferitsch, PhD,
Advisory board member for Biogen Austria Advisory board member for Novartis pharma
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Journal f?r Neurologie, Neurochirurgie und Psychiatrie, member of the editorial board since 2000
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- Hans Lassmann, PhD and
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I have received speaker and travel honoraria for several scientific meetings from Biogen Idec, Novartis, Roche and Teva.
I am member of the Editorial Board of several Journals in the fields of Neurology and Neuroscience.
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I have served as a consultant for Medday and Roche.
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Austrian Science Fund, Projects P27744, I 2114;principal investigator; 2014-2017 European Union PITN.GA-316722; Subproject; This funding is not directly related to the respective article
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- Alexander Zimprich, PhD
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- From the Department of Neurology (E.M.R., S.P., C.S., F.L., F.Z., A.Z.), Medical University of Vienna, Austria; Institut für Humangenetik (E.G., T.W., T.S.), Helmholtz Zentrum München, Germany; Center for Brain Research (T.Z., H.L.), Medical University of Vienna; Division of Nephrology and Dialysis (C.K.), Department of Internal Medicine III, Medical University of Vienna; Department of Physical Medicine (M.K.), Rehabilitation and Occupational Medicine, Medical University of Vienna, Austria; Lübeck Interdisciplinary Platform for Genome Analytics (C.M.L.), Institutes of Neurogenetics and for Cardiogenetics, University of Lübeck; Department of Neurology and Neuroimaging Center (NIC) (C.M.L.), Focus Program Translational Neuroscience (FTN), University Medical Center of the Johannes Gutenberg University Mainz; Department of Human Genetics (S.H., J.T.E.), Ruhr-University Bochum; Herdecke (J.T.E.), ZBAF, Faculty of Health, University Witten; Department of Neurology (U.K.Z., M.H.), Neuroimmunological Section, University of Rostock; Department of Neurology (A.D.), Department of Clinical Genomics (A.D.), Department of Neuroscience (A.D.), Jeweils Mayo Clinic, Jacksonville, FL; Department of Neurology (S.G.M.), University of Muenster, Germany; Department of Physiology and Biochemistry (M.A., B.M.), School of Medicine, the University of Jordan; The National Center (Institute) for Diabetes (M.E.-K.), Endocrinology and Genetics (NCDEG), Amman, Jordan; Department of Medical Genetics (C.V.-G., A.D.S.), University of British Columbia, Vancouver, Canada; Department of Medical Biochemistry and Microbiology (B.T.), Uppsala University, Sweden; Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria; and Institute for Neuroimmunological and Neurodegenerative Disorders (W.K.), SMZ-Ost-Donauspital, Vienna, Austria.
- Correspondence
Dr. A. Zimprich alexander.zimprich{at}meduniwien.ac.at
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