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LAMP3 protein, human OR C114233 Dotaz Zobrazit nápovědu

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Článek

Novel Associations of BST1 and LAMP3 With REM Sleep Behavior Disorder

To examine the potential effect of rare nonsynonymous BST1 variants on the protein structure, we performed ...

Mufti, Kheireddin
Autor Mufti, Kheireddin From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Yu, Eric
Autor Yu, Eric From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Rudakou, Uladzislau
Autor Rudakou, Uladzislau From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Krohn, Lynne
Autor Krohn, Lynne From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Ruskey, Jennifer A
Autor Ruskey, Jennifer A From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Asayesh, Farnaz
Autor Asayesh, Farnaz From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Laurent, Sandra B
Autor Laurent, Sandra B From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Spiegelman, Dan
Autor Spiegelman, Dan From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Arnulf, Isabelle
Autor Arnulf, Isabelle From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN
Hu, Michele T M
Autor Hu, Michele T M From the Department of Human Genetics (K.M., E.Y., U.R., L.K., G.A.R., Z.G.-O.), Montreal Neurological Institute (K.M., E.Y., U.R., L.K., J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Department of Neurology and Neurosurgery (J.A.R., F.A., S.B.L., D.S., G.A.R., R.B.P., Z.G.-O.), Centre de Recherche en Biologie Structurale (J.-F.T.), and Department of Pharmacology and Therapeutics (J.-F.T.), McGill University, Montréal, Quebec, Canada Sleep Disorders Unit (I.A.), Pitié Salpêtrière Hospital, Paris Brain Institute and Sorbonne University, France Oxford Parkinson's Disease Centre (OPDC) (M.T.M.H.) and Nuffield Department of Clinical Neurosciences (M.T.M.H.), University of Oxford, UK Center for Advanced Research in Sleep Medicine (J.Y.M., J.-F.G., A.D., R.B.P.), Centre Intégré Universitaire de Santé et de Services Sociaux du Nord-de-l'Île-de-Montréal-Hôpital du Sacré-Coeur de Montréal Departments of Psychiatry (J.Y.M.) and Neurosciences (A.D.), Université de Montréal Department of Psychology (J.-F.G.), Université du Québec à Montréal, Canada National Reference Center for Narcolepsy (Y.D.), Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, France Clinical Neurology Unit (G.L.G., M.V., F.J., A.B.), Department of Neurosciences, University Hospital of Udine DMIF (G.L.G.) and Department of Medicine (DAME) (M.V.), University of Udine, Italy Sleep Disorders Clinic (B.H., A.S., E.H.), Department of Neurology, Medical University of Innsbruck, Austria Department of Neurology (K.S., D.K.) and Centre of Clinical Neuroscience (K.S., D.K.), Charles University, First Faculty of Medicine and General University Hospital, Prague, Czech Republic Department of Neurology (W.O., A.J., F.S.-D.), Philipps University, Marburg, Germany Department of Biomedical, Metabolic and Neural Sciences (G.P.), University of Modena and Reggio-Emilia IRCCS (G.P.), Institute of Neurological Sciences of Bologna Neurology Unit (E.A.), Movement Disorders Division, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona Department of Medical Sciences and Public Health (M.F., M.P.), Sleep Disorder Research Center, University of Cagliari, Italy Paracelsus-Elena-Klinik (B.M., C.T., F.S.-D.), Kassel Department of Neurosurgery (B.M., C.T.), University Medical Centre Göttingen, Germany Sleep and Neurology Unit (V.C.D.C.), Beau Soleil Clinic EuroMov Digital Health in Motion (V.C.D.C.), University of Montpellier IMT Mines Ales University Lille North of France (C.C.M.), Department of Clinical Neurophysiology and Sleep Center, CHU Lille Department of Sleep Medicine and Neuromuscular Disorders (A.H.), University of Müenster, Germany Department of Neurological Sciences (L.F.-S.), Università Vita-Salute San Raffaele, Milan, Italy Laboratory for Sleep Disorders (F.D., M.V.) and Department of Neurology (F.D., M.V.), St. Dimpna Regional Hospital, Geel Department of Neurology (F.D.), University Hospital Antwerp, Edegem, Belgium Sleep Disorder Unit (B.A.), Carémeau Hospital, University Hospital of Nîmes, France and Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN

Neurology. 2021 ; 96 (10) : e1402-e1412. [pub] 20210104

ISSN 1526-632X
Medvik
Zdroj

OBJECTIVE: To examine the role of genes identified through genome-wide association studies (GWASs) of Parkinson disease (PD) in the risk of isolated REM sleep behavior disorder (iRBD). METHODS: We fully sequenced 25 genes previously identified in GWASs of PD in a total of 1,039 patients with iRBD and 1,852 controls. The role of rare heterozygous variants in these genes was examined with burden tests. The contribution of biallelic variants was further tested. To examine the potential effect of rare nonsynonymous BST1 variants on the protein structure, we performed in silico structural analysis. Finally, we examined the association of common variants using logistic regression adjusted for age and sex. RESULTS: We found an association between rare heterozygous nonsynonymous variants in BST1 and iRBD (p = 0.0003 at coverage >50× and 0.0004 at >30×), driven mainly by 3 nonsynonymous variants (p.V85M, p.I101V, and p.V272M) found in 22 (1.2%) controls vs 2 (0.2%) patients. All 3 variants seem to be loss-of-function variants with a potential effect on the protein structure and stability. Rare noncoding heterozygous variants in LAMP3 were also associated with iRBD (p = 0.0006 at >30×). We found no association between rare heterozygous variants in the rest of genes and iRBD. Several carriers of biallelic variants were identified, yet there was no overrepresentation in iRBD. CONCLUSION: Our results suggest that rare coding variants in BST1 and rare noncoding variants in LAMP3 are associated with iRBD. Additional studies are required to replicate these results and to examine whether loss of function of BST1 could be a therapeutic target.

MeSH
ADP-ribosylcyklasa genetika MeSH
CD antigeny genetika MeSH
celogenomová asociační studie MeSH
databáze genetické MeSH
genetická variace MeSH
GPI-vázané proteiny genetika MeSH
heterozygot MeSH
lidé středního věku MeSH
lidé MeSH
membránové glykoproteiny asociované s lyzozomy genetika MeSH
nádorové proteiny genetika MeSH
počítačová simulace MeSH
polysomnografie MeSH
porucha chování v REM spánku epidemiologie genetika MeSH
sekundární struktura proteinů MeSH
senioři MeSH
Check Tag
lidé středního věku MeSH
lidé MeSH
mužské pohlaví MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Molecular patterns of subclinical and clinical rejection of kidney allograft: quantity matters

IL1RAPL2, CXCR5), proinflammatory cytokines (IL12A, LTA), inflammatory mediator (PTAFR), complement protein ...

Kidney & blood pressure research. 2015 ; 40 (3) : 244-257. [pub] 20150508

Kidney Blood Press Res
ISSN 1423-0143
Medvik
Zdroj

BACKGROUND/AIMS: Subclinical rejection diagnosed from protocol biopsies is thought to be a risk factor of long- term allograft dysfunction. The reason why in some patients subclinical rejection does not represent risk for progression is not fully understood. METHODS: The intragraft expression of 376 target genes involved in chemokine defense, apoptosis, inflammation, tolerance and TGF-β signalling pathways was measured using quantitative real-time RT-PCR (2(-)∆∆(Ct)) method in subclinical inflammation (SCI, n=10), clinical inflammation in acute T-cell mediated rejection (CI, n=10) and no rejection samples (n=9). RESULTS: Clinical inflammation group showed a increased expression of genes for chemotaxis mediating cytokines (CCL1, CCL17, CCL24, CCL25, CCL26), cytokine receptors (CCR1, CCRL2, IL1RAPL2, CXCR5), proinflammatory cytokines (IL12A, LTA), inflammatory mediator (PTAFR), complement protein C3, executioner protein of apoptosis (CASP7), growth factor (TGFA), colony stimulating factor (CSF-2), proteins involved in dendritic cells differentiation and interaction (CD209, LAMP3), regulation of immune response (LILRB2, LILBRB4). The quantitative difference in transcripts signature between SCI and CI is consistent with stronger proinflammatory setting of CI. Prostaglandin E2 receptor gene expression was independently associated with lower risk of further graft function deterioration (OR 0.11, CI 0.01-0.78, p<0.0001). CONCLUSION: Subclinical acute kidney inflammation has transcriptional profile of immune injury of lower extend compared to clinical acute inflammation.

MeSH
apoptóza MeSH
biopsie MeSH
chemokiny metabolismus MeSH
cytokiny metabolismus MeSH
dospělí MeSH
exprese genu genetika MeSH
imunosupresiva terapeutické užití MeSH
lidé středního věku MeSH
lidé MeSH
mediátory zánětu metabolismus MeSH
přežívání štěpu MeSH
progrese nemoci MeSH
receptory cytokinové metabolismus MeSH
rejekce štěpu genetika metabolismus MeSH
riziko MeSH
RNA analýza biosyntéza MeSH
senioři MeSH
signální transdukce MeSH
transformující růstový faktor beta metabolismus MeSH
transplantace ledvin * MeSH
výsledek terapie MeSH
zánět patologie MeSH
Check Tag
dospělí MeSH
lidé středního věku MeSH
lidé MeSH
mužské pohlaví MeSH
senioři MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Kolekce

Publikováno

Filtry

LAMP3 protein, human OR C114233 Dotaz Zobrazit nápovědu

LAMP3 protein, human OR C114233 Dotaz Zobrazit nápovědu

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