PMC Links for Nucleotide (Select 1695104311) - PMC

Select item 67136151.

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

Shizuka B. Yamada, Tania F. Gendron, Teresa Niccoli, Naomi R. Genuth, Rosslyn Grosely, Yingxiao Shi, Idoia Glaria, Nicholas J. Kramer, Lisa Nakayama, Shirleen Fang, Tai J. I. Dinger, Annora Thoeng, Gabriel Rocha, Maria Barna, Joseph D. Puglisi, Linda Partridge, Justin K. Ichida, Adrian M. Isaacs, Leonard Petrucelli, Aaron D. Gitler

Nat Neurosci. Author manuscript; available in PMC 2020 Jan 29.

Published in final edited form as: Nat Neurosci. 2019 Sep; 22(9): 1383–1388. Published online 2019 Jul 29. doi: 10.1038/s41593-019-0455-7

PMCID:: PMC6713615

Abstract Article PDF–1.2M

Select item 32029862.

Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis

Mariely DeJesus-Hernandez, Ian R. Mackenzie, Bradley F. Boeve, Adam L. Boxer, Matt Baker, Nicola J. Rutherford, Alexandra M. Nicholson, NiCole A. Finch, Heather Flynn Gilmer, Jennifer Adamson, Naomi Kouri, Aleksandra Wojtas, Pheth Sengdy, Ging-Yuek R. Hsiung, Anna Karydas, William W. Seeley, Keith A. Josephs, Giovanni Coppola, Daniel H. Geschwind, Zbigniew K. Wszolek, Howard Feldman, David Knopman, Ronald Petersen, Bruce L. Miller, Dennis Dickson, Kevin Boylan, Neill Graff-Radford, Rosa Rademakers

Neuron. Author manuscript; available in PMC 2012 Oct 20.

Published in final edited form as: Neuron. 2011 Oct 20; 72(2): 245–256. Published online 2011 Sep 21. doi: 10.1016/j.neuron.2011.09.011

PMCID:: PMC3202986

Abstract Article PDF–1.7M

Select item 32004383.

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J. Raphael Gibbs, Jennifer C. Schymick, Hannu Laaksovirta, John C. van Swieten, Liisa Myllykangas, Hannu Kalimo, Anders Paetau, Yevgeniya Abramzon, Anne M. Remes, Alice Kaganovich, Sonja W. Scholz, Jamie Duckworth, Jinhui Ding, Daniel W. Harmer, Dena G. Hernandez, Janel O. Johnson, Kin Mok, Mina Ryten, Danyah Trabzuni, Rita J. Guerreiro, Richard W. Orrell, James Neal, Alex Murray, Justin Pearson, Iris E. Jansen, David Sondervan, Harro Seelaar, Derek Blake, Kate Young, Nicola Halliwell, Janis Callister, Greg Toulson, Anna Richardson, Alex Gerhard, Julie Snowden, David Mann, David Neary, Michael A. Nalls, Terhi Peuralinna, Lilja Jansson, Veli-Matti Isoviita, Anna-Lotta Kaivorinne, Maarit Hölttä-Vuori, Elina Ikonen, Raimo Sulkava, Michael Benatar, Joanne Wuu, Adriano Chiò, Gabriella Restagno, Giuseppe Borghero, Mario Sabatelli, The ITALSGEN Consortium, David Heckerman, Ekaterina Rogaeva, Lorne Zinman, Jeffrey Rothstein, Michael Sendtner, Carsten Drepper, Evan E. Eichler, Can Alkan, Zied Abdullaev, Svetlana D. Pack, Amalia Dutra, Evgenia Pak, John Hardy, Andrew Singleton, Nigel M. Williams, Peter Heutink, Stuart Pickering-Brown, Huw R. Morris, Pentti J. Tienari, Bryan J. Traynor

Neuron. Author manuscript; available in PMC 2012 Oct 20.

Published in final edited form as: Neuron. 2011 Oct 20; 72(2): 257–268. Published online 2011 Sep 21. doi: 10.1016/j.neuron.2011.09.010

PMCID:: PMC3200438

Abstract Article PDF–1.4M

Select item 62604784.

Non-coding RNA in C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia: A perfect storm of dysfunction

Andrew G.L. Douglas

Noncoding RNA Res. 2018 Dec; 3(4): 178–187. Published online 2018 Sep 10. doi: 10.1016/j.ncrna.2018.09.001

Correction in:: Noncoding RNA Res. 2020 Dec; 5(4): 219.

PMCID:: PMC6260478

Abstract Article PDF–1.2M

Select item 62447425.

ALS and CHARGE syndrome: a clinical and genetic study

Carmine Ungaro, Luigi Citrigno, Francesca Trojsi, Teresa Sprovieri, Giulia Gentile, Maria Muglia, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Sebastiano Cavallaro, Francesca Luisa Conforti

Acta Neurol Belg. 2018; 118(4): 629–635. Published online 2018 Oct 13. doi: 10.1007/s13760-018-1029-2

PMCID:: PMC6244742

Abstract Article PDF–1.0M

Select item 62064556.

The C9ORF72 Gene, Implicated in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia, Encodes a Protein That Functions in Control of Endothelin and Glutamate Signaling

Vitalay Fomin, Patricia Richard, Mainul Hoque, Cynthia Li, Zhuoying Gu, Mercedes Fissore-O'Leary, Bin Tian, Carol Prives, James L. Manley

Mol Cell Biol. 2018 Nov 15; 38(22): e00155-18. Prepublished online 2018 Aug 27. Published online 2018 Oct 29. doi: 10.1128/MCB.00155-18

PMCID:: PMC6206455

Abstract Article PDF–2.1M

Select item 60910507.

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Petra Frick, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand, Manuela Neumann

Acta Neuropathol Commun. 2018; 6: 72. Published online 2018 Aug 3. doi: 10.1186/s40478-018-0579-0

PMCID:: PMC6091050

Abstract Article PDF–3.2M

Select item 56042948.

Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review

Hui-Chi Lin, Chin-Hsien Lin, Pei-Lung Chen, Shih-Jung Cheng, Pei-Hao Chen

BMC Neurol. 2017; 17: 186. Published online 2017 Sep 18. doi: 10.1186/s12883-017-0966-3

PMCID:: PMC5604294

Abstract Article PDF–2.2M

Select item 54985539.

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia

Ranjan Batra, Chris W. Lee

Front Cell Neurosci. 2017; 11: 196. Published online 2017 Jul 6. doi: 10.3389/fncel.2017.00196

PMCID:: PMC5498553

Abstract Article PDF–645K

Select item 502519210.

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients

Gamze Guven, Ebba Lohmann, Jose Bras, J. Raphael Gibbs, Hakan Gurvit, Basar Bilgic, Hasmet Hanagasi, Patrizia Rizzu, Peter Heutink, Murat Emre, Nihan Erginel-Unaltuna, Walter Just, John Hardy, Andrew Singleton, Rita Guerreiro

PLoS One. 2016; 11(9): e0162592. Published online 2016 Sep 15. doi: 10.1371/journal.pone.0162592

PMCID:: PMC5025192

Abstract Article PDF–2.4M

Select item 446720411.

Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72

Shouta Kitano, Yoshihiro Kino, Yoji Yamamoto, Mika Takitani, Junko Miyoshi, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima, Jun-ichi Satoh

J Cent Nerv Syst Dis. 2015; 7: 15–26. Published online 2015 Jun 8. doi: 10.4137/JCNSD.S24317

PMCID:: PMC4467204

Abstract Article PDF–6.1M

Select item 404931012.

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

Manal A. Farg, Vinod Sundaramoorthy, Jessica M. Sultana, Shu Yang, Rachel A.K. Atkinson, Vita Levina, Mark A. Halloran, Paul A. Gleeson, Ian P. Blair, Kai Y. Soo, Anna E. King, Julie D. Atkin

Hum Mol Genet. 2014 Jul 1; 23(13): 3579–3595. Published online 2014 Feb 18. doi: 10.1093/hmg/ddu068

Correction in:: Hum Mol Genet. 2017 Oct 15; 26(20): 4093–4094.

PMCID:: PMC4049310

Abstract Article PDF–1.8M

Select item 385597913.

Oligonucleotide-Based Therapy for FTD/ALS Caused by the C9orf72 Repeat Expansion: A Perspective

Stephanie A. Fernandes, Andrew G. L. Douglas, Miguel A. Varela, Matthew J. A. Wood, Yoshitsugu Aoki

J Nucleic Acids. 2013; 2013: 208245. Published online 2013 Nov 17. doi: 10.1155/2013/208245

PMCID:: PMC3855979

Abstract Article PDF–738K

Select item 367934414.

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in ALS

Matthew B. Harms, Janet Cady, Craig Zaidman, Paul Cooper, Taha Bali, Peggy Allred, Carlos Cruchaga, Michael Baughn, Alan Pestronk, Alison Goate, John Ravits, Robert H. Baloh

Neurobiol Aging. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Neurobiol Aging. 2013 Sep; 34(9): 2234.e13–2234.e19. Published online 2013 Apr 16. doi: 10.1016/j.neurobiolaging.2013.03.006

PMCID:: PMC3679344

Abstract Article PDF–950K

Select item 350694715.

Dystrophic neurites express C9orf72 in Alzheimer's disease brains

Jun-ichi Satoh, Hiroko Tabunoki, Tsuyoshi Ishida, Yuko Saito, Kunimasa Arima

Alzheimers Res Ther. 2012; 4(4): 33. Published online 2012 Aug 16. doi: 10.1186/alzrt136

PMCID:: PMC3506947

Abstract Article PDF–10M

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