Cited by 298Amyotrophic Lateral Sclerosis ResearchGenetic Neurodegenerative DiseasesHereditary Neurological Disorders

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

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O’Rourke, Jacqueline G., Bogdanik, Laurent, Muhammad, A.K.M.G., Gendron, Tania F., Kim, Kevin J., Austin, Andrew, Cady, Janet, Liu, Elaine Y., Zarrow, Jonah, Grant, Sharday, Ho, Ritchie, Bell, Shaughn, Carmona, Sharon, Simpkinson, Megan, Lall, Deepti, Wu, Kathryn, Daughrity, Lillian, Dickson, Dennis W., Harms, Matthew B., Petrucelli, Leonard, Lee, Edward B., Lutz, Cathleen M., Baloh, Robert H.·2015·Neuron

DOI 10.1016/j.neuron.2015.10.027PMC PMC4672384

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Abstract

Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Here we report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp). C9-BACexp mice displayed pathologic features seen in C9orf72 expansion patients, including widespread RNA foci and repeat-associated non-ATG (RAN) translated dipeptides, which were suppressed by antisense oligonucleotides targeting human C9orf72. Nucleolin distribution was altered, supporting that either C9orf72 transcripts or RAN dipeptides promote nucleolar dysfunction. Despite early and widespread production of RNA foci and RAN dipeptides in C9-BACexp mice, behavioral abnormalities and neurodegeneration were not observed even at advanced ages, supporting the hypothesis that RNA foci and RAN dipeptides occur presymptomatically and are not sufficient to drive neurodegeneration in mice at levels seen in patients.

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Authors: O’Rourke, J. G., Bogdanik, L., Muhammad, A. K. M. G., Gendron, T. F., Kim, K. J., Austin, A., Cady, J., Liu, E. Y., Zarrow, J., Grant, S., Ho, R., Bell, S., Carmona, S., Simpkinson, M., Lall, D., Wu, K., Daughrity, L., Dickson, D. W., Harms, M. B., Petrucelli, L., Lee, E. B., Lutz, C. M., & Baloh, R. H.
Affiliations: Cedars-Sinai Medical Center (US)
Jackson Laboratory (US)
Mayo Clinic (US)
Washington University in St. Louis (US)
University of Pennsylvania (US)
Corresponding author: Baloh, Robert H.
ORCID: Bogdanik, Laurent
Gendron, Tania F.
Kim, Kevin J.
Zarrow, Jonah
Ho, Ritchie
Bell, Shaughn
Wu, Kathryn
Daughrity, Lillian
Dickson, Dennis W.
Harms, Matthew B.
Petrucelli, Leonard
Lee, Edward B.
Lutz, Cathleen M.
Baloh, Robert H.
Venue: Neuron
Publisher: Elsevier BV
Published: 2015-12
Volume: 88
Issue: 5
Pages: 892-901
ISSN: 0896-6273 (ISSN-L)
DOI: 10.1016/j.neuron.2015.10.027
PMC: PMC4672384
OpenAlex: W2187620259
Cited by: 298
References: 41
Citations by year: 2026: 6 · 2025: 15 · 2024: 23 · 2023: 12 · 2022: 22 · 2021: 42 · 2020: 36 · 2019: 27 · 2018: 41 · 2017: 31 · 2016: 40 · 2015: 2
FWCI: 26.79
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 367 d)
Locations: Neuron (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
Funders: National Institutes of Health (NS055980, NS069669, AG039510, AG000255, NS089979, NS084528, NS063964, NS077402, NS084974, ES20395)
Department of Defense ALSRP (AL130125)
Mayo Clinic Foundation
Mayo Clinic Center for Individualized Medicine
ALS Association
Robert Packard Center for ALS Research at Johns Hopkins
Target ALS
Robert and Louise Schwab Family
Cedars-Sinai ALS Research Fund
National Center for Advancing Translational Sciences (UL1TR000124)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: C9orf72, hexanucleotide repeat expansion, amyotrophic lateral sclerosis, frontotemporal dementia, RNA foci, antisense oligonucleotides, nucleolin, neurodegeneration
MeSH terms: C9orf72 Protein, Age Factors, Amyotrophic Lateral Sclerosis, Animals, Brain, Cells, Cultured, Disease Models, Animal, Humans, Mice, Transgenic, Motor Activity, Neuromuscular Junction, Neurons, Proteins, Psychomotor Performance, Spinal Cord, Glutamic Acid, Chromosomes, Artificial, Bacterial, DNA Repeat Expansion, Mice, Muscle Strength, Frontotemporal Dementia

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

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