Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates.
Autorzy :
García-Huerta P; Faculty of Medicine, Biomedical Neuroscience Institute, University of Chile, Santiago, Chile.; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, Sector B, Second Floor, Faculty of Medicine, University of Chile, Independencia 1027, P.O. Box 70086, Santiago, Chile. Troncoso-Escudero P; Faculty of Medicine, Biomedical Neuroscience Institute, University of Chile, Santiago, Chile.; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, Sector B, Second Floor, Faculty of Medicine, University of Chile, Independencia 1027, P.O. Box 70086, Santiago, Chile.; Center for Integrative Biology, Faculty of Sciences, University Mayor, Santiago, Chile. Wu D; Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Thiruvalluvan A; Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Cisternas-Olmedo M; Faculty of Medicine, Biomedical Neuroscience Institute, University of Chile, Santiago, Chile.; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Center for Integrative Biology, Faculty of Sciences, University Mayor, Santiago, Chile. Henríquez DR; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Department of Cell Biology, Faculty of Sciences, University of Chile, Santiago, Chile. Plate L; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA, USA. Chana-Cuevas P; Faculty of Medical Sciences, University of Santiago de Chile, Santiago, Chile. Saquel C; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Center for Integrative Biology, Faculty of Sciences, University Mayor, Santiago, Chile. Thielen P; Department of Immunology and Infectious Diseases, Harvard School of Public Health, Boston, MA, 02115, USA. LongoKA; Proteostasis Therapeutics, Cambridge, MA, USA. Geddes BJ; Proteostasis Therapeutics, Cambridge, MA, USA. Lederkremer GZ; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; George Wise Faculty of Life Sciences, School of Molecular Cell Biology and Biotechnology, Tel Aviv University, Tel Aviv, Israel. Sharma N; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; George Wise Faculty of Life Sciences, School of Molecular Cell Biology and Biotechnology, Tel Aviv University, Tel Aviv, Israel. Shenkman M; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; George Wise Faculty of Life Sciences, School of Molecular Cell Biology and Biotechnology, Tel Aviv University, Tel Aviv, Israel. Naphade S; Buck Institute for Research on Aging, Novato, CA, 94945, USA. Sardi SP; Rare and Neurological Diseases Therapeutic Area, Sanofi, 49 New York Avenue, Framingham, MA, 01701, USA. Spichiger C; Faculty of Sciences, Institute of Biochemistry and Microbiology, University Austral of Chile, Valdivia, Chile. Richter HG; Faculty of Medicine, Institute of Anatomy, Histology and Pathology, University Austral of Chile, Valdivia, Chile. Court FA; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Center for Integrative Biology, Faculty of Sciences, University Mayor, Santiago, Chile.; Buck Institute for Research on Aging, Novato, CA, 94945, USA. Tshilenge KT; Buck Institute for Research on Aging, Novato, CA, 94945, USA. Ellerby LM; Buck Institute for Research on Aging, Novato, CA, 94945, USA. Wiseman RL; Department of Molecular Medicine, The Scripps Research Institute, La Jolla, CA, USA. Gonzalez-Billault C; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile.; Department of Cell Biology, Faculty of Sciences, University of Chile, Santiago, Chile.; Buck Institute for Research on Aging, Novato, CA, 94945, USA. Bergink S; Department of Biomedical Sciences of Cells and Systems, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Vidal RL; Faculty of Medicine, Biomedical Neuroscience Institute, University of Chile, Santiago, Chile. .; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile. .; Center for Integrative Biology, Faculty of Sciences, University Mayor, Santiago, Chile. . Hetz C; Faculty of Medicine, Biomedical Neuroscience Institute, University of Chile, Santiago, Chile. .; Center for Geroscience, Brain Health and Metabolism, Santiago, Chile. .; Program of Cellular and Molecular Biology, Institute of Biomedical Sciences, Sector B, Second Floor, Faculty of Medicine, University of Chile, Independencia 1027, P.O. Box 70086, Santiago, Chile. .; Buck Institute for Research on Aging, Novato, CA, 94945, USA. .
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Źródło :
Acta neuropathologica [Acta Neuropathol] 2020 Nov; Vol. 140 (5), pp. 737-764. Date of Electronic Publication: 2020 Jul 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Investigational Assay for Haplotype Phasing of the Huntingtin Gene.
Autorzy :
Svrzikapa N; Wave Life Sciences Ltd., Cambridge, MA 02138, USA.; Department of Paediatrics, Medical Sciences Division, University of Oxford, Oxford OX3 9DU, UK. LongoKA; Wave Life Sciences Ltd., Cambridge, MA 02138, USA. Prasad N; HudsonAlpha Discovery, Discovery Life Sciences, Huntsville, AL 35806, USA.; Genomic Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Boyanapalli R; Wave Life Sciences Ltd., Cambridge, MA 02138, USA. Brown JM; Wave Life Sciences Ltd., Cambridge, MA 02138, USA. Dorset D; HudsonAlpha Discovery, Discovery Life Sciences, Huntsville, AL 35806, USA.; Genomic Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Yourstone S; Q Solutions | EA Genomics, LLC, Morrisville, NC 27560, USA. Powers J; Q Solutions | EA Genomics, LLC, Morrisville, NC 27560, USA. Levy SE; HudsonAlpha Discovery, Discovery Life Sciences, Huntsville, AL 35806, USA.; Genomic Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Morris AJ; Wave Life Sciences Ltd., Cambridge, MA 02138, USA. Vargeese C; Wave Life Sciences Ltd., Cambridge, MA 02138, USA. Goyal J; Wave Life Sciences Ltd., Cambridge, MA 02138, USA.
Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease.
Autorzy :
Claassen DO; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Corey-Bloom J; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Dorsey ER; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Edmondson M; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Kostyk SK; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. LeDoux MS; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Reilmann R; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Rosas HD; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Walker F; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Wheelock V; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Svrzikapa N; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. LongoKA; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Goyal J; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Hung S; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK. Panzara MA; Vanderbilt University Medical Center (D.O.C.), Nashville, TN; University of California San Diego (J.C.-B.), La Jolla; University of Rochester Medical Center (E.R.D.), NY; HD Reach (M.E.), Raleigh, NC; Ohio State University (S.K.K.), Columbus; University of Memphis and Veracity Neuroscience, LLC (M.S.L.), TN; George-Huntingon-Institute & Department of Clinical Radiology University of Muenster (R.R.), Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tuebingen, Germany; Havard Medical School (H.D.R.), Massachusetts General Hospital, Boston; Wake Forest University School of Medicine (F.W.), Winston Salem, NC; University of California Davis Health (V.W.), Sacramento, CA; Wave Life Sciences USA, Inc. (N.S., K.A.L., J.G., S.H., M.A.P.), Cambridge, MA; and Department of Paediatrics (N.S.), Medical Sciences Division, University of Oxford, UK.
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Źródło :
Neurology. Genetics [Neurol Genet] 2020 May 14; Vol. 6 (3), pp. e430. Date of Electronic Publication: 2020 May 14 (Print Publication: 2020).
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