• 14529 Citations
  • 65 Scopus h-Index
1992 …2021
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Research Output 1992 2019

  • 14529 Citations
  • 65 Scopus h-Index
  • 194 Article
  • 4 Chapter
  • 3 Review article
  • 1 Comment/debate
2019
3 Citations (Scopus)

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

Chew, J., Cook, C., Gendron, T. D., Jansen-West, K., Del Rosso, G., Daughrity, L. M., Castanedes-Casey, M., Kurti, A., Stankowski, J. N., Disney, M. D., Rothstein, J. D., Dickson, D. W., Fryer, J. D., Zhang, Y. & Petrucelli, L., Feb 15 2019, In : Molecular neurodegeneration. 14, 1, 1 p.

Research output: Contribution to journalArticle

TDP-43 Proteinopathies
Dipeptides
RNA
Proteins
Antisense RNA
4 Citations (Scopus)

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Moore, S., Alsop, E., Lorenzini, I., Starr, A., Rabichow, B. E., Mendez, E., Levy, J. L., Burciu, C., Reiman, R., Chew, J., Belzil, V., W. Dickson, D., Robertson, J., Staats, K. A., Ichida, J. K., Petrucelli, L., Van Keuren-Jensen, K. & Sattler, R., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

RNA Editing
Adenosine Deaminase
RNA
Amyotrophic Lateral Sclerosis
Eukaryotic Initiation Factor-2
Open Access
Frontotemporal Lobar Degeneration
Neurites
Inclusion Bodies
Mutation
Blood Vessels

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

Goodman, L. D., Prudencio, M., Srinivasan, A. R., Rifai, O. M., Lee, V. M. Y., Petrucelli, L. & Bonini, N. M., Apr 25 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Drosophila
Dipeptides
Poisons
Down-Regulation
Reading Frames

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Carlomagno, Y., Chung, D. E. C., Yue, M., Kurti, A., Avendano, N. M., Castanedes-Casey, M., Hinkle, K. M., Jansen-West, K., Daughrity, L. M., Tong, J., Phillips, V., Rademakers, R. V., Deture, M., Fryer, J. D., Dickson, D. W., Petrucelli, L. & Cook, C., Jan 23 2019, In : Acta neuropathologica communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Dependovirus
Phosphorylation
Tauopathies
Brain
Progressive Supranuclear Palsy

Erratum: Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease (Neuron (2018) 99(5) (925–940.e7), (S0896627318306378) (10.1016/j.neuron.2018.07.039))

Eftekharzadeh, B., Daigle, J. G., Kapinos, L. E., Coyne, A., Schiantarelli, J., Carlomagno, Y., Cook, C., Miller, S. J., Dujardin, S., Amaral, A. S., Grima, J. C., Bennett, R. E., Tepper, K., Deture, M., Vanderburg, C. R., Corjuc, B. T., DeVos, S. L., Gonzalez, J. A., Chew, J., Vidensky, S. & 10 others, Gage, F. H., Mertens, J., Troncoso, J., Mandelkow, E., Salvatella, X., Lim, R. Y. H., Petrucelli, L., Wegmann, S., Rothstein, J. D. & Hyman, B. T., Jan 16 2019, In : Neuron. 101, 2, 1 p.

Research output: Contribution to journalComment/debate

tau Proteins
Cell Nucleus Active Transport
Names
Publications
Alzheimer Disease
2 Citations (Scopus)

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

Cook, C. & Petrucelli, L., Mar 20 2019, In : Neuron. 101, 6, p. 1057-1069 13 p.

Research output: Contribution to journalReview article

Amyotrophic Lateral Sclerosis
Neurodegenerative Diseases
Quality Control
Nervous System
Genes
4 Citations (Scopus)

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

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., Van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R. V., Jan 1 2019, In : Acta neuropathologica.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Genome
Genes
Mutation
4 Citations (Scopus)

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

Zhang, Y., Guo, L., Gonzales, P. K., Gendron, T. D., Wu, Y., Jansen-West, K., O’Raw, A. D., Pickles, S. R., Prudencio, M., Carlomagno, Y., Gachechiladze, M. A., Ludwig, C., Tian, R., Chew, J., DeTure, M., Lin, W. L., Tong, J., Daughrity, L. M., Yue, M., Song, Y. & 15 others, Andersen, J. W., Castanedes-Casey, M., Kurti, A., Datta, A., Antognetti, G., McCampbell, A., Rademakers, R. V., Oskarsson, B., Dickson, D. W., Kampmann, M., Ward, M. E., Fryer, J. D., Link, C. D., Shorter, J. & Petrucelli, L., Feb 15 2019, In : Science. 363, 6428, eaav2606.

Research output: Contribution to journalArticle

Double-Stranded RNA
Heterochromatin
Proline
Arginine
Proteins

Microglia in frontotemporal lobar degeneration with progranulin or C9ORF72 mutations

Sakae, N., Roemer, S. F., Bieniek, K. F., Murray, M. E., Baker, M. C., Kasanuki, K., Graff Radford, N. R., Petrucelli, L., Van Blitterswijk, M., Rademakers, R. V. & Dickson, D. W., Jan 1 2019, (Accepted/In press) In : Annals of Clinical and Translational Neurology.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Microglia
Mutation
Immunohistochemistry
1 Citation (Scopus)

Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains

Josephs, K. A., Murray, M. E., Tosakulwong, N., Weigand, S. D., Serie, A. M., Perkerson, R. B., Matchett, B. J., Jack, C. R. J., Knopman, D. S., Petersen, R. C., Parisi, J. E., Petrucelli, L., Baker, M., Rademakers, R. V., Whitwell, J. L. & Dickson, D. W., Jan 1 2019, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

Amygdala
Frontotemporal Lobar Degeneration
Brain
Neuroimaging
Hippocampus
1 Citation (Scopus)

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Yamada, S. B., Gendron, T. D., Niccoli, T., Genuth, N. R., Grosely, R., Shi, Y., Glaria, I., Kramer, N. J., Nakayama, L., Fang, S., Dinger, T. J. I., Thoeng, A., Rocha, G., Barna, M., Puglisi, J. D., Partridge, L., Ichida, J. K., Isaacs, A. M., Petrucelli, L. & Gitler, A. D., Sep 1 2019, In : Nature Neuroscience. 22, 9, p. 1383-1388 6 p.

Research output: Contribution to journalArticle

Ribosome Subunits
Ribosomal Proteins
Protein Subunits
Neurodegenerative Diseases
Nucleotides
1 Citation (Scopus)

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight

Ebbert, M. T. W., Jensen, T. D., Jansen-West, K., Sens, J. P., Reddy, J. S., Ridge, P. G., Kauwe, J. S. K., Belzil, V., Pregent, L., Carrasquillo, M. M., Keene, D., Larson, E., Crane, P., Asmann, Y., Taner, N., Younkin, S. G., Ross, O. A., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., May 20 2019, In : Genome biology. 20, 1, 97.

Research output: Contribution to journalArticle

Open Access
gene
Technology
Alzheimer disease
Genes
Alzheimer Disease

Tau exhibits unique seeding properties in globular glial tauopathy

Chung, D. E. C., Carlomagno, Y., Cook, C., Jansen-West, K., Daughrity, L., Lewis-Tuffin, L. J., Castanedes-Casey, M., Deture, M., Dickson, D. W. & Petrucelli, L., Mar 7 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Tauopathies
Neuroglia
tau Proteins
Inclusion Bodies
Biosensing Techniques
6 Citations (Scopus)

The Hairpin Form of r(G 4 C 2 ) exp in c9ALS/FTD Is Repeat-Associated Non-ATG Translated and a Target for Bioactive Small Molecules

Wang, Z. F., Ursu, A., Childs-Disney, J. L., Guertler, R., Yang, W. Y., Bernat, V., Rzuczek, S. G., Fuerst, R., Zhang, Y., Gendron, T. D., Yildirim, I., Dwyer, B. G., Rice, J. E., Petrucelli, L. & Disney, M. D., Feb 21 2019, In : Cell Chemical Biology. 26, 2, p. 179-190.e12

Research output: Contribution to journalArticle

Frontotemporal Dementia
RNA-Binding Proteins
Toxicity
RNA
G-Quadruplexes
3 Citations (Scopus)
alpha-Synuclein
Amyloid
Blood Vessels
Pathology
Apolipoprotein E4

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

Goodman, L. D., Prudencio, M., Kramer, N. J., Martinez-Ramirez, L. F., Srinivasan, A. R., Lan, M., Parisi, M. J., Zhu, Y., Chew, J., Cook, C., Berson, A., Gitler, A. D., Petrucelli, L. & Bonini, N. M., Jan 1 2019, In : Nature Neuroscience.

Research output: Contribution to journalArticle

Poisons
Drosophila
RNA Polymerase II
Dipeptides
Amyotrophic Lateral Sclerosis
2018
10 Citations (Scopus)

APOE ε2 is associated with increased tau pathology in primary tauopathy

Zhao, N., Liu, C-C., Van Ingelgom, A. J., Linares, C., Kurti, A., Knight, J. A., Heckman, M. G., Diehl, N. N., Shinohara, M., Martens, Y. A., Attrebi, O. N., Petrucelli, L., Fryer, J. D., Wszolek, Z. K., Graff Radford, N. R., Caselli, R. J., Sanchez-Contreras, M. Y., Rademakers, R. V., Murray, M. E., Koga, S. & 3 others, Dickson, D. W., Ross, O. A. & Bu, G. D., Dec 1 2018, In : Nature Communications. 9, 1, 4388.

Research output: Contribution to journalArticle

Apolipoprotein E2
Tauopathies
pathology
Pathology
mice
7 Citations (Scopus)

Association of Apolipoprotein e ϵ4 with Transactive Response DNA-Binding Protein 43

Wennberg, A. M., Tosakulwong, N., Lesnick, T. G., Murray, M. E., Whitwell, J. L., Liesinger, A. M., Petrucelli, L., Boeve, B. F., Parisi, J. E., Knopman, D. S., Petersen, R. C., Dickson, D. W. & Josephs, K. A., Jan 1 2018, (Accepted/In press) In : JAMA Neurology. p. E1-E8

Research output: Contribution to journalArticle

Apolipoproteins
DNA-Binding Proteins
Apolipoprotein E4
Alzheimer Disease
Apolipoproteins E
14 Citations (Scopus)

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Swinnen, B., Bento-Abreu, A., Gendron, T. D., Boeynaems, S., Bogaert, E., Nuyts, R., Timmers, M., Scheveneels, W., Hersmus, N., Wang, J., Mizielinska, S., Isaacs, A. M., Petrucelli, L., Lemmens, R., van Damme, P., van Den Bosch, L. & Robberecht, W., Jan 4 2018, (Accepted/In press) In : Acta Neuropathologica. p. 1-17 17 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Zebrafish
Dipeptides
RNA
Proteins
15 Citations (Scopus)

Converging pathways in neurodegeneration, from genetics to mechanisms

Gan, L., Cookson, M. R., Petrucelli, L. & La Spada, A. R., Oct 1 2018, In : Nature Neuroscience. 21, 10, p. 1300-1309 10 p.

Research output: Contribution to journalReview article

Neurodegenerative Diseases
Medical Genetics
Rare Diseases
Innate Immunity
Quality Control

CRISPR expands insight into the mechanisms of ALS and FTD

Pickles, S. & Petrucelli, L., Apr 25 2018, (Accepted/In press) In : Nature Reviews Neurology. p. 1-2 2 p.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
Hand Strength
Therapeutics
Frontotemporal Dementia With Motor Neuron Disease
Gene Editing
26 Citations (Scopus)

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

Tabet, R., Schaeffer, L., Freyermuth, F., Jambeau, M., Workman, M., Lee, C. Z., Lin, C. C., Jiang, J., Jansen-West, K., Abou-Hamdan, H., Désaubry, L., Gendron, T. D., Petrucelli, L., Martin, F. & Lagier-Tourenne, C., Dec 1 2018, In : Nature Communications. 9, 1, 152.

Research output: Contribution to journalArticle

Advanced Launch System (STS)
Dipeptides
RNA, Transfer, Met
proteins
Scanning
2 Citations (Scopus)

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

Mordes, D. A., Prudencio, M., Goodman, L. D., Klim, J. R., Moccia, R., Limone, F., Pietilainen, O., Chowdhary, K., Dickson, D. W., Rademakers, R. V., Bonini, N. M., Petrucelli, L. & Eggan, K., Jul 4 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Heat-Shock Response
Dipeptides
Amyotrophic Lateral Sclerosis
Heat-Shock Proteins
13 Citations (Scopus)

Disease mechanisms of c9orf72 repeat expansions

Gendron, T. D. & Petrucelli, L., Apr 1 2018, In : Cold Spring Harbor perspectives in medicine. 8, 4, a024224.

Research output: Contribution to journalArticle

Frontotemporal Dementia
Muscular Atrophy
Dipeptides
Muscle Weakness
Cognition
11 Citations (Scopus)

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

Ebbert, M. T. W., Farrugia, S. L., Sens, J. P., Jansen-West, K., Gendron, T. D., Prudencio, M., McLaughlin, I. J., Bowman, B., Seetin, M., Dejesus-Hernandez, M., Jackson, J., Brown, P. H., Dickson, D. W., Van Blitterswijk, M., Rademakers, R. V., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular Neurodegeneration. 13, 1, 46.

Research output: Contribution to journalArticle

Technology
Nucleotides
Nanopores
Plasmids
Clustered Regularly Interspaced Short Palindromic Repeats
2 Citations (Scopus)

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Nicholson, A. M., Zhou, X., Perkerson, R. B., Parsons, T. M., Chew, J., Brooks, M., DeJesus-Hernandez, M., Finch, N. C. A., Matchett, B. J., Kurti, A., Jansen-West, K. R., Perkerson, E., Daughrity, L., Castanedes-Casey, M., Rousseau, L., Phillips, V., Hu, F., Gendron, T. D., Murray, M. E., Dickson, D. W. & 3 others, Fryer, J. D., Petrucelli, L. & Rademakers, R. V., May 31 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Frontotemporal Lobar Degeneration
Frontotemporal Dementia
Phenotype
Mutation
Dipeptides
13 Citations (Scopus)

Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau

Kang, S., Ebbert, M. T. W., Baker, K. E., Cook, C., Wang, X., Sens, J. P., Kocher, J-P., Petrucelli, L. & Fryer, J. D., Jan 1 2018, In : Journal of Experimental Medicine. 215, 9, p. 2235-2245 11 p.

Research output: Contribution to journalArticle

Amyloid
Tauopathies
Alzheimer Disease
Amyloidosis
Disease Susceptibility
1 Citation (Scopus)

Neurodegenerative Diseases and RNA-Mediated Toxicity

Todd, T. W. & Petrucelli, L., Apr 4 2018, The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms. Elsevier Inc., p. 441-475 35 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Neurodegenerative Diseases
RNA
Poisons
DNA Repeat Expansion
RNA-Binding Proteins
8 Citations (Scopus)

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L. H. H., Gendron, T. D., Sias, A. C., Jiskoot, L. C., Russo, S. P., Donker Kaat, L., Papma, J. M., Panman, J. L., van der Ende, E. L., Dopper, E. G., Franzen, S., Graff, C., Boxer, A. L., Rosen, H. J., Sanchez-Valle, R., Galimberti, D., Pijnenburg, Y. A. L., Benussi, L., Ghidoni, R., Borroni, B. & 21 others, Laforce, R., del Campo, M., Teunissen, C. E., van Minkelen, R., Rojas, J. C., Coppola, G., Geschwind, D. H., Rademakers, R. V., Karydas, A. M., Öijerstedt, L., Scarpini, E., Binetti, G., Padovani, A., Cash, D. M., Dick, K. M., Bocchetta, M., Miller, B. L., Rohrer, J. D., Petrucelli, L., van Swieten, J. C. & Lee, S. E., May 1 2018, In : Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

Research output: Contribution to journalArticle

Intermediate Filaments
Light
Frontotemporal Dementia
Atrophy
Biomarkers
29 Citations (Scopus)

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Zhang, Y., Gendron, T. D., Ebbert, M. T. W., O’Raw, A. D., Yue, M., Jansen-West, K., Zhang, X., Prudencio, M., Chew, J., Cook, C., Daughrity, L. M., Tong, J., Song, Y., Pickles, S. R., Castanedes-Casey, M., Kurti, A., Rademakers, R. V., Oskarsson, B., Dickson, D. W., Hu, W. & 3 others, Gitler, A. D., Fryer, J. D. & Petrucelli, L., Jun 25 2018, (Accepted/In press) In : Nature Medicine. p. 1-7 7 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Protein Biosynthesis
Dipeptides
Proteins
Brain
9 Citations (Scopus)
Open Access
Frontotemporal Lobar Degeneration
Dipeptides
Brain Diseases
Motor Neuron Disease
Polymers
11 Citations (Scopus)

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

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., Van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R. V., Jun 1 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

Frontotemporal Lobar Degeneration
Inborn Genetic Diseases
Genome-Wide Association Study
Age of Onset
Meta-Analysis
4 Citations (Scopus)

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

Sanchez-Contreras, M. Y., Kouri, N., Cook, C., Serie, D. J., Heckman, M. G., Finch, N. A., Caselli, R. J., Uitti, R. J., Wszolek, Z. K., Graff Radford, N. R., Petrucelli, L., Wang, L. S., Schellenberg, G. D., Dickson, D. W., Rademakers, R. V. & Ross, O. A., Jul 9 2018, In : Molecular Neurodegeneration. 13, 1, 37.

Research output: Contribution to journalArticle

Progressive Supranuclear Palsy
Genome-Wide Association Study
Tauopathies
Diencephalon
Basal Ganglia
27 Citations (Scopus)

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease

Eftekharzadeh, B., Daigle, J. G., Kapinos, L. E., Coyne, A., Schiantarelli, J., Carlomagno, Y., Cook, C., Miller, S. J., Dujardin, S., Amaral, A. S., Grima, J. C., Bennett, R. E., Tepper, K., Deture, M., Vanderburgh, C. R., Corjuc, B. T., DeVos, S. L., Gonzalez, J. A., Chew, J., Vidensky, S. & 10 others, Gage, F. H., Mertens, J., Troncoso, J., Mandelkow, E., Salvatella, X., Lim, R. Y. H., Petrucelli, L., Wegmann, S., Rothstein, J. D. & Hyman, B. T., Sep 5 2018, In : Neuron. 99, 5, p. 925-940.e7

Research output: Contribution to journalArticle

Nuclear Pore
tau Proteins
Cell Nucleus Active Transport
Alzheimer Disease
Nuclear Pore Complex Proteins
65 Citations (Scopus)

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Chou, C. C., Zhang, Y., Umoh, M. E., Vaughan, S. W., Lorenzini, I., Liu, F., Sayegh, M., Donlin-Asp, P. G., Chen, Y. H., Duong, D. M., Seyfried, N. T., Powers, M. A., Kukar, T., Hales, C. M., Gearing, M., Cairns, N. J., Boylan, K. B., Dickson, D. W., Rademakers, R. V., Zhang, Y. & 5 others, Petrucelli, L., Sattler, R., Zarnescu, D. C., Glass, J. D. & Rossol, W., Feb 1 2018, In : Nature Neuroscience. 21, 2, p. 228-239 12 p.

Research output: Contribution to journalArticle

Nuclear Pore
Cell Nucleus Active Transport
DNA-Binding Proteins
Pathology
Nuclear Pore Complex Proteins
1 Citation (Scopus)

The Caenorhabditis elegans Ortholog of TDP-43 Regulates the Chromatin Localization of the Heterochromatin Protein 1 Homolog HPL-2

Saldi, T. K., Gonzales, P., Garrido-Lecca, A., Dostal, V., Roberts, C. M., Petrucelli, L. & Link, C. D., Aug 1 2018, In : Molecular and cellular biology. 38, 15

Research output: Contribution to journalArticle

Caenorhabditis elegans
Chromatin
Nuclear RNA
RNA Interference
RNA
3 Citations (Scopus)

TIA1 regulates the generation and response to toxic tau oligomers

Jiang, L., Ash, P. E. A., Maziuk, B. F., Ballance, H. I., Boudeau, S., Abdullatif, A. A., Orlando, M., Petrucelli, L., Ikezu, T. & Wolozin, B., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

RNA-Binding Proteins
Poisons
Tauopathies
Hippocampal CA1 Region
Motor Neuron Disease

TRIO gene segregation in a family with cerebellar ataxia

Hanna Al Shaikh, R., Caulfield, T., Strongosky, A. J., Matthew, M., Jansen-West, K. R., Prudencio, M., Fryer, J. D., Petrucelli, L., Uitti, R. J. & Wszolek, Z. K., Jan 1 2018, (Accepted/In press) In : Neurologia i Neurochirurgia Polska.

Research output: Contribution to journalArticle

Cerebellar Ataxia
Ataxia
Genes
Mothers
Exome
11 Citations (Scopus)

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

McGoldrick, P., Zhang, M., van Blitterswijk, M., Sato, C., Moreno, D., Xiao, S., Zhang, A. B., McKeever, P. M., Weichert, A., Schneider, R., Keith, J., Petrucelli, L., Rademakers, R. V., Zinman, L., Robertson, J. & Rogaeva, E., Jan 23 2018, In : Neurology. 90, 4, p. e323-e331

Research output: Contribution to journalArticle

Open Access
Dipeptides
Amyotrophic Lateral Sclerosis
Fathers
RNA
Pathology
2017
3 Citations (Scopus)

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Finch, N. A., Wang, X., Baker, M. C., Heckman, M. G., Gendron, T. D., Bieniek, K. F., Wuu, J., Dejesus-Hernandez, M., Brown, P. H., Chew, J., Jansen-West, K. R., Daughrity, L. M., Nicholson, A. M., Murray, M. E., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F. & 8 others, Graff Radford, N. R., Asmann, Y., Dickson, D. W., Benatar, M., Bowser, R., Boylan, K. B., Rademakers, R. V. & Van Blitterswijk, M., Jan 1 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 9
Prealbumin
Homeobox Genes
Open Reading Frames
Up-Regulation
21 Citations (Scopus)

An Acetylation–phosphorylation switch that regulates tau aggregation propensity and function

Carlomagno, Y., Chung, D. E. C., Yue, M., Castanedes-Casey, M., Madden, B. J., Dunmore, J., Tong, J., Deture, M., Dickson, D. W., Petrucelli, L. & Cook, C., 2017, In : Journal of Biological Chemistry. 292, 37, p. 15277-15286 10 p.

Research output: Contribution to journalArticle

Phosphorylation
Acetylation
Histone Deacetylases
Agglomeration
Switches
12 Citations (Scopus)

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

Lee, Y. B., Baskaran, P., Gomez-Deza, J., Chen, H. J., Nishimura, A. L., Smith, B. N., Troakes, C., Adachi, Y., Stepto, A., Petrucelli, L., Gallo, J. M., Hirth, F., Rogelj, B., Guthrie, S. & Shaw, C. E., Dec 1 2017, In : Human Molecular Genetics. 26, 24, p. 4765-4777 13 p.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
Dipeptides
Spinal Cord
Cell Death
RNA
1 Citation (Scopus)

Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion

Farhan, S. M. K., Gendron, T. D., Petrucelli, L., Hegele, R. A. & Strong, M. J., Oct 1 2017, In : Neurology: Genetics. 3, 5, e190.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
21 Citations (Scopus)

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

DeJesus-Hernandez, M., Finch, N. C. A., Wang, X., Gendron, T. D., Bieniek, K. F., Heckman, M. G., Vasilevich, A., Murray, M. E., Rousseau, L., Weesner, R., Lucido, A., Parsons, M., Chew, J., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Boeve, B. F., Graff Radford, N. R., de Boer, J. & 6 others, Asmann, Y., Petrucelli, L., Boylan, K. B., Dickson, D. W., Van Blitterswijk, M. & Rademakers, R. V., May 15 2017, (Accepted/In press) In : Acta Neuropathologica. p. 1-15 15 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 9
Open Reading Frames
Antisense RNA
RNA
Dipeptides
22 Citations (Scopus)

Loss of clusterin shifts amyloid deposition to the cerebrovasculature via disruption of perivascular drainage pathways

Wojtas, A. M., Kang, S., Olley, B. M., Gatherer, M., Shinohara, M., Lozano, P. A., Liu, C-C., Kurti, A., Baker, K. E., Dickson, D. W., Yue, M., Petrucelli, L., Bu, G. D., Carare, R. O. & Fryer, J. D., Aug 15 2017, In : Proceedings of the National Academy of Sciences of the United States of America. 114, 33, p. E6962-E6971

Research output: Contribution to journalArticle

Clusterin
Cerebral Amyloid Angiopathy
Amyloid
Drainage
Alzheimer Disease
13 Citations (Scopus)

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

Kawamata, H., Peixoto, P., Konrad, C., Palomo, G., Bredvik, K., Gerges, M., Valsecchi, F., Petrucelli, L., Ravits, J. M., Starkov, A. & Manfredi, G., May 8 2017, In : Molecular Neurodegeneration. 12, 1, 37.

Research output: Contribution to journalArticle

Energy Metabolism
Oxidative Phosphorylation
Mitochondrial Dynamics
Brain
Calcium
1 Citation (Scopus)
Frontotemporal Dementia
Genes
Multifactorial Inheritance
Phenotype
Amyotrophic Lateral Sclerosis
40 Citations (Scopus)

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

Gendron, T. D., Chew, J., Stankowski, J. N., Hayes, L. R., Zhang, Y., Prudencio, M., Carlomagno, Y., Daughrity, L. M., Jansen-West, K., Perkerson, E. A., O'Raw, A., Cook, C., Pregent, L., Belzil, V., Van Blitterswijk, M., Tabassian, L. J., Lee, C. W., Yue, M., Tong, J., Song, Y. & 59 others, Castanedes-Casey, M., Rousseau, L., Phillips, V., Dickson, D. W., Rademakers, R. V., Fryer, J. D., Rush, B. K., Pedraza, O. D., Caputo, A. M., Desaro, P., Palmucci, C., Robertson, A., Heckman, M. G., Diehl, N. N., Wiggs, E., Tierney, M., Braun, L., Farren, J., Lacomis, D., Ladha, S., Fournier, C. N., McCluskey, L. F., Elman, L. B., Toledo, J. B., McBride, J. D., Tiloca, C., Morelli, C., Poletti, B., Solca, F., Prelle, A., Wuu, J., Jockel-Balsarotti, J., Rigo, F., Ambrose, C., Datta, A., Yang, W., Raitcheva, D., Antognetti, G., McCampbell, A., Van Swieten, J. C., Miller, B. L., Boxer, A. L., Brown, R. H., Bowser, R., Miller, T. M., Trojanowski, J. Q., Grossman, M., Berry, J. D., Hu, W. T., Ratti, A., Traynor, B. J., Disney, M. D., Benatar, M., Silani, V., Glass, J. D., Floeter, M. K., Rothstein, J. D., Boylan, K. B. & Petrucelli, L., Mar 29 2017, In : Science Translational Medicine. 9, 383, eaai7866.

Research output: Contribution to journalArticle

Amyotrophic Lateral Sclerosis
RNA
Proteins
Antisense Oligonucleotides
Therapeutics
27 Citations (Scopus)

Rates of hippocampal atrophy and presence of post-mortem TDP-43 in patients with Alzheimer's disease: A longitudinal retrospective study

Josephs, K. A., Dickson, D. W., Tosakulwong, N., Weigand, S. D., Murray, M. E., Petrucelli, L., Liesinger, A. M., Senjem, M. L., Spychalla, A. J., Knopman, D. S., Parisi, J. E., Petersen, R. C., Jack, C. R. J. & Whitwell, J. L., 2017, (Accepted/In press) In : The Lancet Neurology.

Research output: Contribution to journalArticle

DNA-Binding Proteins
Atrophy
Longitudinal Studies
Alzheimer Disease
Retrospective Studies