Leonard Petrucelli

Leonard Petrucelli

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Leonard Petrucelli

Leonard Petrucelli

Publications by authors named "Leonard Petrucelli"

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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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https://linkinghub.elsevier.com/retrieve/pii/S00283843183023
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http://dx.doi.org/10.1016/j.pjnns.2018.09.006DOI Listing
June 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 Jun 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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http://link.springer.com/10.1007/s00401-019-01962-9
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http://dx.doi.org/10.1007/s00401-019-01962-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533145PMC
June 2019

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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http://dx.doi.org/10.1186/s40478-019-0711-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485101PMC
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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http://dx.doi.org/10.1016/j.neuron.2019.02.032DOI Listing
March 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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http://dx.doi.org/10.1007/s00401-018-1937-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377165PMC
February 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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http://www.nature.com/articles/s41593-018-0237-7
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http://dx.doi.org/10.1038/s41593-018-0237-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6278826PMC
October 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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http://dx.doi.org/10.1038/s41582-018-0005-zDOI Listing
June 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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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

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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http://dx.doi.org/10.1101/cshperspect.a024224DOI Listing
April 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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http://dx.doi.org/10.1002/ajmg.b.32606DOI Listing
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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http://dx.doi.org/10.1212/WNL.0000000000004865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798652PMC
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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https://academic.oup.com/hmg/article/26/24/4765/4157469
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http://dx.doi.org/10.1093/hmg/ddx350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886201PMC
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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http://dx.doi.org/10.1212/NXG.0000000000000190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5616022PMC
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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http://dx.doi.org/10.1212/NXG.0000000000000161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5479438PMC
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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http://dx.doi.org/10.1186/s13024-017-0180-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5422931PMC
May 2017

Unlocking the Mystery of ALS.

Sci Am 2017 May;316(6):46-51

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http://dx.doi.org/10.1038/scientificamerican0617-46DOI Listing
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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http://dx.doi.org/10.1126/scitranslmed.aai7866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5576451PMC
March 2017

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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http://link.springer.com/10.1007/s00401-016-1587-4
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http://dx.doi.org/10.1007/s00401-016-1587-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5138862PMC
October 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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http://dx.doi.org/10.1111/jnc.13623DOI Listing
August 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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http://dx.doi.org/10.1016/j.celrep.2016.04.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325702PMC
May 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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http://dx.doi.org/10.1016/j.expneurol.2015.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4761318PMC
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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http://dx.doi.org/10.1016/j.neuron.2015.10.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672384PMC
December 2015

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.

Nature 2015 Sep 26;525(7567):129-33. Epub 2015 Aug 26.

Howard Hughes Medical Institute, Department of Cell and Molecular Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

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http://dx.doi.org/10.1038/nature14974DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4631399PMC
September 2015

Understanding biomarkers of neurodegeneration: Novel approaches to detecting tau pathology.

Nat Med 2015 Mar;21(3):219-20

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

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http://dx.doi.org/10.1038/nm.3809DOI Listing
March 2015

Linking the VPS35 and EIF4G1 pathways in Parkinson's disease.

Neuron 2015 Jan;85(1):1-3

Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2014.12.045DOI Listing
January 2015

TDP-1, the Caenorhabditis elegans ortholog of TDP-43, limits the accumulation of double-stranded RNA.

EMBO J 2014 Dec 12;33(24):2947-66. Epub 2014 Nov 12.

Institute for Behavioral Genetics University of Colorado, Boulder, CO, USA Integrative Physiology, University of Colorado, Boulder, CO, USA.

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http://dx.doi.org/10.15252/embj.201488740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282642PMC
December 2014

Acetylation: a new key to unlock tau's role in neurodegeneration.

Alzheimers Res Ther 2014 29;6(3):29. Epub 2014 May 29.

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

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http://dx.doi.org/10.1186/alzrt259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075151PMC
July 2014

ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43.

Nat Commun 2014 Jun 3;5:3996. Epub 2014 Jun 3.

1] Department of Neuroscience, Institute of Psychiatry, Kings College London, London SE5 8AF, UK [2] Clinical Neurosciences, Institute of Psychiatry, Kings College London, London SE5 8AF, UK.

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http://dx.doi.org/10.1038/ncomms4996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046113PMC
June 2014

ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor.

J Neurosci 2014 Mar;34(12):4167-74

Department of Pharmacology and Experimental Therapeutics and Department of Neurology, Boston University School of Medicine, Boston, Massachusetts 02118, Center for Regenerative Medicine, Boston University School of Medicine and Boston Medical Center, Boston, Massachusetts 02118, and Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224.

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http://dx.doi.org/10.1523/JNEUROSCI.2350-13.2014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960463PMC
March 2014