Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis
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Article Information
- Received December 3, 2020
- Accepted in final form April 13, 2021
- First Published June 16, 2021.
Article Versions
- Previous version (June 16, 2021 - 12:45).
- You are viewing the most recent version of this article.
Author Disclosures
- Kristi L. Russell, BS*,
- Jonathan M. Downie, MD, PhD*,
- Summer B. Gibson, MD*,
- Spyridoula Tsetsou, MD*,
- Matthew D. Keefe, PhD,
- Jerry A. Duran, BS,
- Karla P. Figueroa, BS,
- Mark B. Bromberg, MD,
- L. Charles Murtaugh, PhD,
- Joshua L. Bonkowsky, MD, PhD*,
- Stefan M. Pulst, MD* and
- Lynn B. Jorde, PhD*
- Kristi L. Russell, BS*,
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(1) NIH, R35 5R35GM118335-04, graduate student, 2016-present
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- Jonathan M. Downie, MD, PhD*,
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(1) National Institute of General Medical Sciences, GM059290, Graduate Research Assistant, 2015-current (2) National Institute of General Medical Sciences, GM118335, Graduate Research Assistant, 2016-current
(1) University of Utah Neuroscience Initiative Collaborative Pilot Project Grant
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- Summer B. Gibson, MD*,
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(1) Skin Biopsy for the Evaluation of Peripheral Nerve Disease. UpToDate. Sept 2013- current (2) Amyotrophic lateral sclerosis. Medlink. June 2016-2020 (3) post polio syndrome. Medlink. Jan 2019- current
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(1) NCATS, TL1TR001066, Trainee, 09/03/2014 - 06/30/2016 Stock/Stock Options, Medical Equipment & Materials: (1) Recursion Pharmaceuticals, 2013-current
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- Spyridoula Tsetsou, MD*,
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- Matthew D. Keefe, PhD,
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Nanostring Technology, Scientist I, 2 years. My employment is not related to this manuscript.
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- Jerry A. Duran, BS,
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- Karla P. Figueroa, BS,
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- Mark B. Bromberg, MD,
Accordant Health Care (1995-present) Baxter Bioscience (2011-present)
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Funds for travel and and speaker honoraria: Grifols Biotherapeutics (2009-present) Baxter Bioscience (2011-present) Sanofi (2017-present)
Muscle & Nerve, Assistant Editor (1996-1999; 2005-2009; 2016- present) Clinical Neurophysiology, Assistant Editor (2008-2014) J Clinical Neuromuscular Diseases, Assistant Editor (1998-present)
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Handbook of Peripheral Neuropathy, Taylor & Francis, 2005 Quality of Life Measurement in Neurodegenerative and Related Conditions, Cambridge University Press, 2010 UpToDate, 2008 to present Motor Neuron Disease in Adults, Oxford University Press, 2014 Navigating Life with ALS, Oxford University Press, 2017 Peripheral Neuropathy, Cambridge University Press, 2018
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Accordant Health Care Takeda
Grifols Biotherapeutics (2009-present) Alexion (2018-present)
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RA Pharma (Drug trial) Orion Pharma (Drug trial)
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- L. Charles Murtaugh, PhD,
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1. NIH, R01CA194941, PI, 2016-2022 2. DoD, PR172387, PI, 2018-2021 3. NIH, R01DK061220, PI, 2015-2021
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- Joshua L. Bonkowsky, MD, PhD*,
Bluebird Bio (5/2017; 10/2017) Calico (1/2019-present) Denali therapeutics (6/2019) Enzyvant (6/2019)
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ZEG: Zebrafish Embryo Genotyper. Device to perform automated zebrafish genotyping.
Pediatric Neurology (Medical Color Handbook Series) 1st Edition Series: Medical Color Handbook Series Paperback: 352 pages Publisher: CRC Press; 1st edition (December 15, 2011) 2nd edition (2017)
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Denali Therapeutics Calico Neurogene Autobahn
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NIH grant, DP2 MH10008, PI, 2012-2017. NIH grant, R21, NIMH , PI, 2015-2017 NIH grant R43, co-PI, 2016-2017 European Leukodystrophy Association, PI, 2016-2018
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March of Dimes Foundation, 2013-2015.
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spouse: 1. FilmArray Respiratory Virus Panel, Biofire Inc., 2013-2019 Stock/Stock Options, Medical Equipment & Materials: Orchard Therapeutics, 2019.
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- Stefan M. Pulst, MD* and
National Ataxia Foundation, Medical Research Advisory Board Hertie Institute for Brain Science, University of Tuebingen
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Nucleic acids encoding ataxin-2 binding proteins; Nucleic acid encoding Schwannomin-binding-proteins and products related thereto; Transgenic mouse expressing a polynucleotide encoding a human ataxin-2 polypeptide; Methods of detecting spinocerebellar ataxia-2 nucleic acids; Nucleic acid encoding spinocerebellar ataxia-2 and products related thereto; Schwannomin-binding-proteins; Compositions and methods for spinocerebellar ataxia; Methods For Modulating Ataxin2 Expression
The Ataxias (Churchill Livingston, 2007), Genetics in Neurology (ANN Press, 2005), Genetics of Movement Disorders (Academic Press, 2003), Neurogenetics (Oxford University Press, 2000), Molecular Genetic Testing in Neurology, 2nd - 5th (AAN Press, 1996)
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2014-2021 National Institutes of Health (R37NS33123): Spinocerebellar ataxia type 2: gene and gene product. 9/30/14-6/30/2021. (Principal Investigator). 2018-2020 Harrington Discovery Institute Harrington Rare Disease Award: Development of a therapeutic for SCA2 and other rare neurodegenerative diseases. 3/1/18-2/28/20. Co-Investigator (Principal Investigator: D. Scoles) 2014-2021 National Institutes of Health Senator Jacob Javits Merit Award (R37 NS033123): Spinocerebellar ataxia type 2: gene and gene product. 10/1/14-6/30/21. Principal Investigator 2017-2020 National Institutes of Health (R21 NS104799-01): Deep cerebellar stimulation to treat degenerative cerebellar ataxia. 9/1/17-8/31/20. Principal Investigator 2017-2022 National Institutes of Health (R01 NS097903): RNA granules in cerebellar neurodegeneration. 4/1/17-3/31/22. Co-Investigator (Principal Investigator: D. Scoles) 2018-2021 National Institute of Neurological Disorders and Stroke (U01 NS103883): Antisense Oligonucleotides for treating spinocerebellar ataxia type 2. 2/15/18-1/31/21. Principal Investigator (with D. Scoles) 2018-2023 National Institute of Neurological Disorders and Stroke (U01 NS104326): Clinical Trial readiness for SCA1 and SCA3. 1/1/18-12/31/2023. Site Investigator (Principal Investigator: T. Ashizawa) 2018-2020 National Institute of Neurological Disorders and Stroke (R21NS103009): Characterization of ATXN2 as a target for ALS in SCA2 motor neurons. 7/1/18-6/30/21. Principal Investigator. 2019-2024 National Institute of Neurological Disorders and Stroke (R01 NS085054): Identifying symptomatic and neuroprotective strategies for cerebellar ataxia. 4/15/2019-3/31/2024. Site Investigator (Principal Investigator: V. Shakkottai) 2020-2023 CYDAN: SCA1 and SCA2 Studies With Cck1 Receptor Agonist. 1/1/2020-12/31/23. Principal Investigator
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University of Utah (license for invention & technologies
University of Utah
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- Lynn B. Jorde, PhD*
Telethon Italy; nonprofit
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Genetics; associate editor
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Medical Genetics; Elsevier; 2020
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NIH -- multiple grants from NIGMS, NHGRI
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- From the Departments of Human Genetics (K.L.R., J.A.D., L.C.M., L.B.J.), Neurology (S.B.G., K.P.F., M.B.B., S.M.P.), and Pediatrics (M.D.K., J.L.B.), University of Utah School of Medicine, Salt Lake City; Department of Medicine (J.M.D.), Massachusetts General Hospital, Boston; Department of Neurosurgery (S.T.), Mount Sinai Hospital, Icahn School of Medicine, New York, NY; and Brain and Spine Center (J.L.B.), Primary Children's Hospital, Salt Lake City, UT.
- Correspondence
Mrs. Russell kristi.russell{at}utah.edu
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