Modelling <i>C9orf72</i>-Related Amyotrophic Lateral Sclerosis in Zebrafish by Gabrielle Fortier, Zoé Butti, Shunmoogum A. Patten

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Repeat length of C9orf72-associated glycine–alanine polypeptides affects their toxicity by Javier Morón-Oset, Lilly Katharina Sophie Fischer, Nathalie Jauré, Pingze Zhang, Annika Julia Jahn, Tessa Supèr, André Pahl, Adrian M. Isaacs, Sebastian Grönke, Linda Partridge

Subjects: “…C9orf72…”
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C9orf72 polyPR directly binds to various nuclear transport components by Hamidreza Jafarinia, Erik van der Giessen, Patrick R Onck

Subjects: “…C9orf72…”
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Creating and characterising physiological mouse models of SOD1- and C9orf72-ALS by Thompson, D

“…Mutations in the superoxide dismutase 1 (<i>SOD1</i>) gene and an intronic repeat expansion in the <i>C9orf72</i> gene together account for ~50% of familial ALS cases.…”

Non-invasive in vivo neuropathology of the C9orf72-related ALS-FTD syndrome by Turner, M

“…In this issue, Floeter and colleagues demonstrate the potential of advanced structural MRI of the brain in this respect, exploring the relationship of white matter tract integrity using diffusion tensor imaging (DTI) to clinical parameters in a genetically homogeneous but clinically heterogeneous group of individuals carrying the C9orf72 repeat expansion …”

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles. by Cooper-Knock, J, Higginbottom, A, Connor-Robson, N, Bayatti, N, Bury, J, Kirby, J, Ninkina, N, Buchman, V, Shaw, P

“…The C9ORF72 genetic variant is more common than other described mutations and, unlike patients with mutations in SOD1, C9ORF72-ALS clinically and pathologically resembles the more numerous sporadic form.(3) However, progress has been limited by lack of understanding of the function of the C9ORF72 locus in health and disease. …”

The role of mitochondrial dysfunction and ER stress in TDP-43 and C9ORF72 ALS by Dafinca, R, Barbagallo, P, Talbot, K

“…Here we review the evidence from in vitro and in vivo models of C9ORF72 and TDP-43-related ALS supporting a central role in pathogenesis for endoplasmic reticulum stress, which activates an unfolded protein response (UPR), and mitochondrial dysfunction. …”

C9orf72 hexanucleotide repeat allele tagging SNPs: Associations with ALS risk and longevity by Karri Kaivola, Karri Kaivola, Matti Pirinen, Matti Pirinen, Matti Pirinen, Hannu Laaksovirta, Lilja Jansson, Lilja Jansson, Osma Rautila, Osma Rautila, Jyrki Launes, Laura Hokkanen, Jari Lahti, Johan G. Eriksson, Johan G. Eriksson, Johan G. Eriksson, Johan G. Eriksson, Timo E. Strandberg, Timo E. Strandberg, FinnGen, Pentti J. Tienari, Pentti J. Tienari

Subjects: “…C9orf72…”
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The neural correlates and clinical characteristics of psychosis in the frontotemporal dementia continuum and the C9orf72 expansion by Emma M Devenney, Ramon Landin-Romero, Muireann Irish, Michael Hornberger, Eneida Mioshi, Glenda M. Halliday, Matthew C. Kiernan, John R. Hodges

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<i>C9orf72</i> Toxic Species Affect ArfGAP-1 Function by Simona Rossi, Michela Di Salvio, Marilisa Balì, Assia De Simone, Savina Apolloni, Nadia D’Ambrosi, Ivan Arisi, Francesca Cipressa, Mauro Cozzolino, Gianluca Cestra

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Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila by Magda L Atilano, Sebastian Grönke, Teresa Niccoli, Liam Kempthorne, Oliver Hahn, Javier Morón-Oset, Oliver Hendrich, Miranda Dyson, Mirjam Lisette Adams, Alexander Hull, Marie-Therese Salcher-Konrad, Amy Monaghan, Magda Bictash, Idoia Glaria, Adrian M Isaacs, Linda Partridge

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Targeting RNA G‐quadruplexes as new treatment strategy for C9orf72 ALS/FTD by Martin H Schludi, Dieter Edbauer

“…The recent discovery of a pathogenic expansion of a (GGGGCC)n repeat in the C9orf72 gene in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) led to a burst of mechanistic discoveries. …”
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Propranolol reduces the accumulation of cytotoxic aggregates in C9orf72-ALS/FTD in vitro models by Mira Seidel, Sandeep Rajkumar, Christina Steffke, Vivien Noeth, Shreya Agarwal, Kevin Roger, Joanna Lipecka, Albert Ludolph, Chiara Ida Guerrera, Tobias Boeckers, Alberto Catanese

“…Mutations in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). …”
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Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis by Monica Consonni, Eleonora Dalla Bella, Anna Nigri, Chiara Pinardi, Greta Demichelis, Luca Porcu, Cinzia Gellera, Viviana Pensato, Stefano F. Cappa, Stefano F. Cappa, Maria Grazia Bruzzone, Giuseppe Lauria, Giuseppe Lauria, Stefania Ferraro

“…Pathologic C9orf72 repeated expansion was found in 13 patients. …”
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C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients by Theresa König, Raphael Wurm, Tandis Parvizi, Sara Silvaieh, Christoph Hotzy, Hakan Cetin, Sigrid Klotz, Ellen Gelpi, Christian Bancher, Thomas Benke, Peter Dal-Bianco, Michaela Defrancesco, Peter Fischer, Josef Marksteiner, Hedwig Sutterlüty, Gerhard Ransmayr, Reinhold Schmidt, Alexander Zimprich, Elisabeth Stögmann

Subjects: “…C9orf72 hexanucleotide repeat expansion…”
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Neuromuscular organoids model spinal neuromuscular pathologies in C9orf72 amyotrophic lateral sclerosis by Chong Gao, Qinghua Shi, Xue Pan, Jiajia Chen, Yuhong Zhang, Jiali Lang, Shan Wen, Xiaodong Liu, Tian-Lin Cheng, Kai Lei

“…Summary: Hexanucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. …”
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Bioenergetic and Autophagic Characterization of Skin Fibroblasts from <i>C9orf72</i> Patients by Maria Isabel Alvarez-Mora, Gloria Garrabou, Tamara Barcos, Francisco Garcia-Garcia, Ruben Grillo-Risco, Emma Peruga, Laura Gort, Sergi Borrego-Écija, Raquel Sanchez-Valle, Judith Canto-Santos, Paula Navarro-Navarro, Laia Rodriguez-Revenga

Subjects: “…C9orf72…”
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A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis by Corrionero Saiz, Ana, Horvitz, Howard Robert

“…The alfa-1 blob phenotype is partially rescued by the expression of the human C9orf72 protein, demonstrating that C9orf72 and alfa-1 function similarly. …”
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Translational profiling of motor neurons with C9orf72 mutations under acute oxidative stress by Xu, Y

“…Mutations in the gene C9orf72-SMCR8 complex subunit (C9orf72) are the most common cause of ALS in populations of European genetic heritage. …”

The pathophysiological role of TDP-43 in amyotrophic lateral sclerosis due to C9orf72 mutations by Scaber, J

“…The main finding is that TDP-43 distribution, rather than C9orf72 RNA foci or dipeptide aggregation in the brain, corresponds best with the areas relevant to the clinical subtype of ALS-FTD. …”