Results 1 to 10 of about 16,368 (183)

Wild-type C9orf72 drives proteasomal dysfunction and mutant aggregates via a Stat1-Isg15 axis in Huntington’s disease [PDF]

Neurotherapeutics
Mutant C9orf72 has been extensively studied as a major genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia, and is also known to generate Huntington’s disease (HD)-like phenocopies. However, despite this strong disease association,
Siew Chin Chan, Chih-Wei Tung, Chih-Yi Chang, Ching-Chun Su, Yi-Ching Chen, Po-Ming Wu, Chia-Yu Tung, Shih-Feng Chen, Hsiao-Ying Kuo, Pei-Hsun Cheng, Chuan-Mu Chen, Shang-Hsun Yang   +11 more
doaj   +2 more sources

FDG-PET in presymptomatic C9orf72 mutation carriers

NeuroImage: Clinical, 2021
Objective: Our aim is to investigate patterns of brain glucose metabolism using fluorodeoxyglucose positron emission tomography (FDG-PET) in presymptomatic carriers of the C9orf72 repeat expansion to better understand the early preclinical stages of ...
Karteek Popuri, Mirza Faisal Beg, Hyunwoo Lee, Rakesh Balachandar, Lei Wang, Vesna Sossi, Claudia Jacova, Matt Baker, Elham Shahinfard, Rosa Rademakers, Ian R.A. Mackenzie, Ging-Yuek R. Hsiung   +11 more
doaj   +2 more sources

Characterization of a C9orf72 Knockout Danio rerio model for ALS and cross-species validation of potential therapeutics screened in Caenorhabditis elegans. [PDF]

PLoS ONE
Intronic hexanucleotide repeat expansions in the C9orf72 gene represent the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
Alexandre Emond, Carl Laflamme, Martine Therrien, Meijiang Liao, Claudia Maios, Audrey Labarre, Pierre Drapeau, J Alex Parker   +7 more
doaj   +2 more sources

New Antibody-Free Mass Spectrometry-Based Quantification Reveals That C9ORF72 Long Protein Isoform Is Reduced in the Frontal Cortex of Hexanucleotide-Repeat Expansion Carriers

Frontiers in Neuroscience, 2018
Frontotemporal dementia (FTD) is a fatal neurodegenerative disease characterized by behavioral and language disorders. The main genetic cause of FTD is an intronic hexanucleotide repeat expansion (G4C2)n in the C9ORF72 gene.
Arthur Viodé, Clémence Fournier, Clémence Fournier, Agnès Camuzat, Agnès Camuzat, François Fenaille, NeuroCEB Brain Bank, Morwena Latouche, Morwena Latouche, Fanny Elahi, Isabelle Le Ber, Isabelle Le Ber, Isabelle Le Ber, Christophe Junot, Foudil Lamari, Foudil Lamari, Vincent Anquetil, Vincent Anquetil, François Becher, Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Charles Duyckaerts, Danielle Seilhean, Véronique Sazdovitch, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes   +36 more
doaj   +1 more source

Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Molecular Therapy: Nucleic Acids
A hexanucleotide (G4C2) repeat expansion (HRE) within intron one of C9ORF72 is the leading genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
James W. Gilbert, Zachary Kennedy, Bruno M.D.C. Godinho, Ashley Summers, Alexandra Weiss, Dimas Echeverria, Brianna Bramato, Nicholas McHugh, David Cooper, Ken Yamada, Matthew Hassler, Hélène Tran, Fen Biao Gao, Robert H. Brown, Jr., Anastasia Khvorova   +14 more
doaj   +1 more source

Phenotypic variability and neuropsychological findings associated with C9orf72 repeat expansions in a Bulgarian dementia cohort.

PLoS ONE, 2018
BACKGROUND:The GGGGCC repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in several European populations. The objective of this study was to determine the
Shima Mehrabian, Håkan Thonberg, Margarita Raycheva, Lena Lilius, Katya Stoyanova, Charlotte Forsell, Lena Cavallin, Desislava Nesheva, Eric Westman, Draga Toncheva, Latchezar Traykov, Bengt Winblad, Caroline Graff   +12 more
doaj   +1 more source

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

Acta Neuropathologica Communications, 2019
A hexanucleotide repeat expansion in a noncoding region of C9orf72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Shangxi Xiao, Paul M. McKeever, Agnes Lau, Janice Robertson   +3 more
doaj   +1 more source

Nuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD

Acta Neuropathologica Communications, 2021
The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene.
Alyssa N. Coyne, Jeffrey D. Rothstein
doaj   +1 more source

C9orf72, a protein associated with amyotrophic lateral sclerosis (ALS) is a guanine nucleotide exchange factor [PDF]

PeerJ, 2018
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two late onset neurodegenerative diseases, have been shown to share overlapping cellular pathologies and genetic origins. Studies suggest that a hexanucleotide repeat expansion in the
Shalini Iyer, Vasanta Subramanian, K. Ravi Acharya   +2 more
doaj   +2 more sources

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

NeuroImage: Clinical, 2018
Frontotemporal dementia (FTD) is a neurodegenerative disease with a strong genetic basis. Understanding the structural brain changes during pre-symptomatic stages may allow for earlier diagnosis of patients suffering from FTD; therefore, we investigated ...
Karteek Popuri, Emma Dowds, Mirza Faisal Beg, Rakesh Balachandar, Mahadev Bhalla, Claudia Jacova, Adrienne Buller, Penny Slack, Pheth Sengdy, Rosa Rademakers, Dana Wittenberg, Howard H. Feldman, Ian R. Mackenzie, Ging-Yuek R. Hsiung   +13 more
doaj   +1 more source