Results 21 to 30 of about 9,658 (171)

Overexpression of Toxic Poly(Glycine-Alanine) Aggregates in Primary Neuronal Cultures Induces Time-Dependent Autophagic and Synaptic Alterations but Subtle Activity Impairments [PDF]

Cells
The pathogenic expansion of the intronic GGGGCC hexanucleotide located in the non-coding region of the C9orf72 gene represents the most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Christina Steffke, Shreya Agarwal, Edor Kabashi, Alberto Catanese   +3 more
doaj   +2 more sources

Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1. [PDF]

Pathophysiology
Abnormal nucleotide insertions of C9orf72, which forms a complex with Smith–Magenis syndrome chromosomal region candidate gene 8 (SMCR8) protein and WD repeat-containing protein 41 (WDR41) protein, are associated with an autosomal-dominant ...
Fukatsu S, Sashi H, Shirai R, Takagi N, Oizumi H, Yamamoto M, Ohbuchi K, Miyamoto Y, Yamauchi J.   +8 more
europepmc   +2 more sources

Cellular and molecular insights into neurodegeneration mediated by the C9orf72 repeat expansion mutation [PDF]

, 2022
Amyotrophic lateral sclerosis (ALS) is an incurable, rapidly progressive and fatal neurodegenerative disorder, characterised by loss of upper and lower motor neurons (MNs).
Mehta, Arpan R.
core   +1 more source

C9orf72 Protein Plasmatic Concentrations Are Similar between C9ORF72 Expansion Carriers and Noncarriers in Frontotemporal Dementia [PDF]

, 2018
International audienceBackground/Aims: The aim of the study was to assess the theory of haploinsufficiency in C9ORF72 expansion carriers, the most frequent causative gene of frontotemporal dementia.
Formaglio, Maité, Sauvée, Mathilde, Latour, Philippe, Bost, Muriel, Fourier, Anthony, Perret-Liaudet, Armand, Quadrio, Isabelle   +6 more
core   +1 more source

Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit

Neurology and Therapy, 2023
A summit held March 2023 in Scottsdale, Arizona (USA) focused on the intronic hexanucleotide expansion in the C9ORF72 gene and its relevance in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS; C9ORF72-FTD/ALS).
Rita Sattler, Bryan J. Traynor, Janice Robertson, Ludo Van Den Bosch, Sami J. Barmada, Clive N. Svendsen, Matthew D. Disney, Tania F. Gendron, Philip C. Wong, Martin R. Turner, Adam Boxer, Suma Babu, Michael Benatar, Michael Kurnellas, Jonathan D. Rohrer, Christopher J. Donnelly, Lynette M. Bustos, Kendall Van Keuren-Jensen, Penny A. Dacks, Marwan N. Sabbagh, Attendees of the inaugural C9ORF72 FTD/ALS Summit   +20 more
doaj   +1 more source

C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation [PDF]

, 2021
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis (ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression and production of potentially toxic RNA and dipeptide repeat proteins.
Muhammad, AKM Ghulam, Muhammad, A K, Geschwind, Daniel H., Bell, Shaughn, Muhammad, A.K.M. Ghulam, Lall, Deepti, O'Rourke, Jacqueline Gire, Sattler, Rita, Holtzman, David M., Blurton-Jones, Mathew, Mahan, Thomas E, O’Rourke, Jacqueline Gire, Ghaffari, Layla, Kim, Junwon, O\u27Rourke, Jacqueline Gire, Vazquez, Michael, Shelest, Oksana, Mota, Thomas A., Baloh, Robert H., Rexach, Jessica E., Landeros, Jesse, Davtyan, Hayk, Geschwind, Daniel H, Mahan, Thomas E., Mota, Thomas A, Ulrich, Jason D, Baloh, Robert H, Rexach, Jessica E, Holtzman, David M, Lorenzini, Ileana, Ulrich, Jason D.   +30 more
core   +1 more source

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Acta Neuropathologica Communications, 2019
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained.
Dennis W. Dickson, Matthew C. Baker, Jazmyne L. Jackson, Mariely DeJesus-Hernandez, NiCole A. Finch, Shulan Tian, Michael G. Heckman, Cyril Pottier, Tania F. Gendron, Melissa E. Murray, Yingxue Ren, Joseph S. Reddy, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Leonard Petrucelli, Björn Oskarsson, John W. Sheppard, Yan W. Asmann, Rosa Rademakers, Marka van Blitterswijk   +22 more
doaj   +1 more source

Deregulated expression of a longevity gene, Klotho, in the C9orf72 deletion mice with impaired synaptic plasticity and adult hippocampal neurogenesis

Acta Neuropathologica Communications, 2020
Hexanucleotide repeat expansion of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. Synergies between loss of C9ORF72 functions and gain of toxicities from the repeat expansions contribute to C9ORF72 ...
Wan Yun Ho, Sheeja Navakkode, Fujia Liu, Tuck Wah Soong, Shuo-Chien Ling   +4 more
doaj   +1 more source

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress [PDF]

, 2017
Hexanucleotide repeat expansions in the C9ORF72 gene are causally associated with frontotemporal lobar dementia (FTLD) and/or amyotrophic lateral sclerosis (ALS). The physiological function of the normal C9ORF72 protein remains unclear. In this study, we
Maharjan, Niran, Künzli, Christina, Saxena, Smita, Buthey, Kilian   +3 more
core   +1 more source

C9ORF72: What It Is, What It Does, and Why It Matters

Frontiers in Cellular Neuroscience, 2021
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) in 2011, this gene and its derived protein, C9ORF72, were completely unknown ...
Julie Smeyers, Julie Smeyers, Elena-Gaia Banchi, Morwena Latouche, Morwena Latouche   +4 more
doaj   +1 more source