Publications by authors named "Leonard Petrucelli"

100Publications

Astrocyte-derived clusterin suppresses amyloid formation in vivo.

Mol Neurodegener 2020 11 27;15(1):71. Epub 2020 Nov 27.

Department of Neuroscience, Mayo Clinic, Collaborative Research Building CR03-010, 13400 E. Shea Blvd, Scottsdale, AZ, 85259, USA.

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November 2020

Structural Features of Small Molecules Targeting the RNA Repeat Expansion That Causes Genetically Defined ALS/FTD.

ACS Chem Biol 2020 12 16;15(12):3112-3123. Epub 2020 Nov 16.

Department of Chemistry, The Scripps Research Institute, 130 Scripps Way, Jupiter, Florida 33458, United States.

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December 2020

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Hum Mol Genet 2020 Sep 4. Epub 2020 Sep 4.

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London SE5 9NU, UK.

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September 2020

Utility of FDG-PET in diagnosis of Alzheimer-related TDP-43 proteinopathy.

Neurology 2020 07 9;95(1):e23-e34. Epub 2020 Jun 9.

From the Departments of Neurology (M.B., H.B., D.T.J., D.S.K., B.F.B., R.C.P., K.A.J.), Radiology (C.G.S., M.L.S., C.R.J., V.L., J.L.W.), and Laboratory Medicine and Pathology (J.E.P.), Mayo Clinic, Rochester, MN; and Department of Neuroscience (M.E.M., L.P., D.W.D.), Mayo Clinic, Jacksonville, FL.

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July 2020

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36.

Neuron 2020 07 5;107(2):292-305.e6. Epub 2020 May 5.

Department of Cell Biology, Emory University, Atlanta, GA 30322, USA; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA 30322, USA; Wallace H. Coulter Graduate Program in Biomedical Engineering, Georgia Institute of Technology & Emory University, Atlanta, GA 30332, USA; Department of Neurology, Emory University, Atlanta, GA 30322, USA. Electronic address:

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July 2020

Posttranslational Modifications Mediate the Structural Diversity of Tauopathy Strains.

Cell 2020 02 6;180(4):633-644.e12. Epub 2020 Feb 6.

Mortimer B. Zuckerman Mind Brain Behavior Institute, Columbia University, New York, NY 10027, USA; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY 10032, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address:

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February 2020

Aβ Puts the Alpha in Synuclein.

Neuron 2020 01;105(2):205-206

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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January 2020

Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes.

J Neurol Neurosurg Psychiatry 2020 04 14;91(4):350-358. Epub 2020 Jan 14.

Department of Neurobiology, Barrow Neurological Institute, Phoenix, Arizona, USA

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April 2020

Utility of the global CDR plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium.

Alzheimers Dement 2020 01;16(1):106-117

Mayo Clinic, Jacksonville, Florida, USA.

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January 2020

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS.

Acta Neuropathol Commun 2019 04 25;7(1):62. Epub 2019 Apr 25.

Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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April 2019

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS.

Neuron 2019 03;101(6):1057-1069

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL, USA. Electronic address:

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March 2019

Tau exhibits unique seeding properties in globular glial tauopathy.

Acta Neuropathol Commun 2019 03 7;7(1):36. Epub 2019 Mar 7.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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March 2019

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Authors:
Cyril Pottier Yingxue Ren Ralph B Perkerson Matt Baker Gregory D Jenkins Marka van Blitterswijk Mariely DeJesus-Hernandez Jeroen G J van Rooij Melissa E Murray Elizabeth Christopher Shannon K McDonnell Zachary Fogarty Anthony Batzler Shulan Tian Cristina T Vicente Billie Matchett Anna M Karydas Ging-Yuek Robin Hsiung Harro Seelaar Merel O Mol Elizabeth C Finger Caroline Graff Linn Öijerstedt Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Johannes Prudlo Patrizia Rizzu Javier Simon-Sanchez Dieter Edbauer Sigrun Roeber Janine Diehl-Schmid Bret M Evers Andrew King M Marsel Mesulam Sandra Weintraub Changiz Geula Kevin F Bieniek Leonard Petrucelli Geoffrey L Ahern Eric M Reiman Bryan K Woodruff Richard J Caselli Edward D Huey Martin R Farlow Jordan Grafman Simon Mead Lea T Grinberg Salvatore Spina Murray Grossman David J Irwin Edward B Lee EunRan Suh Julie Snowden David Mann Nilufer Ertekin-Taner Ryan J Uitti Zbigniew K Wszolek Keith A Josephs Joseph E Parisi David S Knopman Ronald C Petersen John R Hodges Olivier Piguet Ethan G Geier Jennifer S Yokoyama Robert A Rissman Ekaterina Rogaeva Julia Keith Lorne Zinman Maria Carmela Tartaglia Nigel J Cairns Carlos Cruchaga Bernardino Ghetti Julia Kofler Oscar L Lopez Thomas G Beach Thomas Arzberger Jochen Herms Lawrence S Honig Jean Paul Vonsattel Glenda M Halliday John B Kwok Charles L White Marla Gearing Jonathan Glass Sara Rollinson Stuart Pickering-Brown Jonathan D Rohrer John Q Trojanowski Vivianna Van Deerlin Eileen H Bigio Claire Troakes Safa Al-Sarraj Yan Asmann Bruce L Miller Neill R Graff-Radford Bradley F Boeve William W Seeley Ian R A Mackenzie John C van Swieten Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Acta Neuropathol 2019 06 9;137(6):879-899. Epub 2019 Feb 9.

Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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June 2019

TIA1 regulates the generation and response to toxic tau oligomers.

Acta Neuropathol 2019 02 21;137(2):259-277. Epub 2018 Nov 21.

Department of Pharmacology and Experimental Therapeutics, Boston University, School of Medicine, Boston, MA, 02118, USA.

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February 2019

TRIO gene segregation in a family with cerebellar ataxia.

Neurol Neurochir Pol 2018 Nov - Dec;52(6):743-749. Epub 2018 Sep 22.

Department of Neurology, Mayo Clinic, Jacksonville, FL, United States. Electronic address:

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June 2019

Converging pathways in neurodegeneration, from genetics to mechanisms.

Nat Neurosci 2018 10 26;21(10):1300-1309. Epub 2018 Sep 26.

Departments of Neurology, Neurobiology, and Cell Biology, and the Duke Center for Neurodegeneration & Neurotherapeutics, Duke University School of Medicine, Durham, NC, USA.

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October 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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June 2018

CRISPR expands insight into the mechanisms of ALS and FTD.

Nat Rev Neurol 2018 Jun;14(6):321-323

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

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June 2018

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

Nat Commun 2018 01 11;9(1):152. Epub 2018 Jan 11.

Department of Neurology, MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

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January 2018

Unaffected mosaic case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression.

Neurology 2018 01 27;90(4):e323-e331. Epub 2017 Dec 27.

From the Tanz Centre for Research in Neurodegenerative Diseases (P.M., M.Z., C.S., D.M., S.X., A.B.Z., P.M.M., A.W., R.S., J.R., E.R.), Department of Medicine (L.Z., E.R.), Division of Neurology, and Department of Laboratory Medicine and Pathobiology (J.R.), University of Toronto, Ontario, Canada; Department of Neuroscience (M.v.B., L.P., R.R.), Mayo Clinic, Jacksonville, FL; and Sunnybrook Health Sciences Centre (J.K., L.Z.), Toronto, Ontario, Canada.

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January 2018

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 28;177(1):75-85. Epub 2017 Oct 28.

Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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January 2018

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Hum Mol Genet 2017 12;26(24):4765-4777

United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London SE5 9NU, UK.

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December 2017

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion.

Neurol Genet 2017 Oct 22;3(5):e190. Epub 2017 Sep 22.

Department of Biochemistry (S.M.K.F., R.A.H.), Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada; Department of Neuroscience (T.F.G., L.P.), Mayo Clinic, Jacksonville, FL; and Department of Clinical Neurological Sciences (M.J.S.), Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

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October 2017

Abnormal expression of homeobox genes and transthyretin in expansion carriers.

Neurol Genet 2017 Aug 7;3(4):e161. Epub 2017 Jun 7.

Department of Neuroscience (N.A.F., M.C.B., T.F.G., K.F.B., M.D.-H., P.H.B., J.C., K.R.J.-W., L.M.D., A.M.N., M.E.M., L.P., D.W.D., R.R., M.v.B.), Department of Health Sciences Research (X.W., Y.W.A.), Department of Neurology (N.R.G.-R., K.B.B.), Division of Biomedical Statistics and Informatics (M.G.H.), Mayo Clinic, Jacksonville, FL; Department of Neurology (J.W., M.B.), University of Miami, FL; Department of Neurology (K.A.J., J.E.P., D.S.K., R.C.P., B.F.B.), Mayo Clinic, Rochester, MN; and Divisions of Neurology and Neurobiology (R.B.), Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, AZ.

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August 2017

Mutant TDP-43 does not impair mitochondrial bioenergetics in vitro and in vivo.

Mol Neurodegener 2017 05 8;12(1):37. Epub 2017 May 8.

Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, 407 East 61st Street, RR507, New York, NY, 10065, USA.

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May 2017

Poly(GP) proteins are a useful pharmacodynamic marker for -associated amyotrophic lateral sclerosis.

Sci Transl Med 2017 03;9(383)

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.

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March 2017

Disease Mechanisms of Repeat Expansions.

Cold Spring Harb Perspect Med 2018 04 2;8(4). Epub 2018 Apr 2.

Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224.

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April 2018

ALS and FTD: an epigenetic perspective.

Acta Neuropathol 2016 10 9;132(4):487-502. Epub 2016 Jun 9.

Department of Research, Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL, 32224, USA.

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October 2016

Interaction of tau with the RNA-Binding Protein TIA1 Regulates tau Pathophysiology and Toxicity.

Cell Rep 2016 05 6;15(7):1455-1466. Epub 2016 May 6.

Department of Pharmacology & Experimental Therapeutics, Boston University School of Medicine, Boston, MA 02118, USA; Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA. Electronic address:

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May 2016

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions.

J Neurochem 2016 08 15;138 Suppl 1:145-62. Epub 2016 Jun 15.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.

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August 2016

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

Exp Neurol 2016 Mar 31;277:171-177. Epub 2015 Dec 31.

Center for Therapeutic Innovation, University of Miami Miller School of Medicine, Miami, FL, USA; Department of Psychiatry & Behavioral Sciences, University of Miami Miller School of Medicine, Miami, FL, USA. Electronic address:

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March 2016

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.

Neuron 2015 Dec;88(5):892-901

Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Department of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. Electronic address:

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December 2015

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

Hum Mol Genet 2016 Feb 27;25(3):534-45. Epub 2015 Nov 27.

International Centre for Genetic Engineering and Biotechnology (ICGEB), 34149 Trieste, Italy and

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February 2016