Results 121 to 130 of about 14,543 (225)

Plasma Proteomic Changes in GRN and C9orf72 Frontotemporal Dementia

European Journal of Neurology, Volume 33, Issue 7, July 2026.
Multiplex plasma profiling of 124 CNS‐related proteins in genetic frontotemporal dementia (FTD) identified NfL and NfH as the most consistently altered biomarkers in both GRN‐ and C9orf72‐associated disease. Distinct protein changes emerged across genotypes, including changes in GFAP and VCAM1 in GRN‐FTD, and reduced NPTXR as well as nominally altered ...
Joel Simrén, Andrea L. Benedet, Guglielmo Di Molfetta, Ilaria Pola, Kübra Tan, Valentina Cantoni, Ilenia Libri, Jasmine Rivolta, Roberta Ghidoni, Henrik Zetterberg, Barbara Borroni, Nicholas J. Ashton   +11 more
wiley   +1 more source

Neural Organoid Models as a Platform for Studying Disease Mechanisms in Amyotrophic Lateral Sclerosis

Journal of Neurochemistry, Volume 170, Issue 7, July 2026.
Amyotrophic lateral sclerosis (ALS) involves widespread cortical pathology beyond the motor cortex. Human‐induced pluripotent stem cell‐derived neural organoids model cortical tissue in vitro and provide a physiologically relevant platform to study disease mechanisms in ALS.
Kristel N. Eigenhuis, Roberto Montoro Ferrer, R. Jeroen Pasterkamp   +2 more
wiley   +1 more source

Cell-type specific differences in promoter activity of the ALS-linked C9orf72 mouse ortholog

Scientific Reports, 2017
A hexanucleotide repeat expansion in the C9orf72 gene is the most common cause of inherited forms of the neurodegenerative disease amyotrophic lateral sclerosis (ALS).
Abraham J. Langseth, Juhyun Kim, Janet E. Ugolino, Yajas Shah, Ho-Yon Hwang, Jiou Wang, Dwight E. Bergles, Solange P. Brown   +7 more
doaj   +1 more source

Promotion of asthenozoospermia by C9orf72 through suppression of spermatogonia activity via fructose metabolism and mitophagy

Open Medicine
To investigate the involvement of C9orf72 in asthenozoospermia and its effects on spermatogonial energy metabolism and mitophagy.
Lu Hui, Xu Dongchuan, Zhao Liqiang, Ruan Hailing, Wang Anguo, Li Yejuan, Lu Weiying   +6 more
doaj   +1 more source

C9orf72 dipeptides activate the NLRP3 inflammasome

Brain Communications
Abstract Frontotemporal dementia and amyotrophic lateral sclerosis are neurodegenerative diseases with considerable clinical, genetic and pathological overlap. The most common cause of both diseases is a hexanucleotide repeat expansion in C9orf72.
Jack Rivers-Auty, Christopher Hoyle, Ayesha Pointer, Catherine Lawrence, Stuart Pickering-Brown, David Brough, Sarah Ryan   +6 more
openaire   +3 more sources

Caractérisation d'un modèle murin knock out pour le gène C9orf72 [PDF]

, 2019
An expansion of G4C2 repeats in C9ORF72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS). These repeats lead to DNA epigenetic changes resulting in a decrease expression of C9ORF72.
Corbier, Camille
core  

Targeting Gene C9orf72 Pathogenesis for Amyotrophic Lateral Sclerosis [PDF]

Amyotrophic lateral sclerosis (ALS) is a fatal adult neurodegenerative disorder. Since no cure has been found, finding effective therapeutic targets for ALS remains a major challenge.
Zhao Zhong Chong, Nizar Souayah
core   +1 more source

Characterization of a C9orf72 knock out mouse model [PDF]

, 2019
Une expansion de répétitions G4C2 dans le gène C9ORF72 est la cause génétique la plus commune de la sclérose latérale amyotrophique (SLA). Afin d’étudier les conséquences de la perte d’expression de C9ORF72, nous avons généré un modèle murin knockout ...
Corbier, Camille
core  

Design considerations for C9orf72 disease prevention trials [PDF]

The idea that it might be possible to prevent some forms of amyotrophic lateral sclerosis and frontotemporal dementia has finally come of age. The hexanucleotide repeat expansion in the C9orf72 gene accounts for ∼10% of all amyotrophic lateral sclerosis ...
Gendron, Tania, Boxer, Adam L, Gleixner, Amanda, Huey, Edward D, Heuer, Hilary W, McDermott, Michael P, Dunn, Billy, Benatar, Michael, Wuu, Joanne, Turner, Martin R, Andersen, Gail, Dave, Kuldip D, Dacks, Penny, Onyike, Chiadi, Rosen, Howard, Quintana, Melanie, Macklin, Eric A, Grignon, Anne-Laure, Berry, James D, Swidler, Jean, Staffaroni, Adam M, Satlin, Andrew, McMillan, Corey T, Balas, Calaneet   +23 more
core   +2 more sources

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy [PDF]

Microsatellite repeat expansion disease loci can exhibit pleiotropic clinical and biological effects depending on repeat length. Large expansions in C9orf72 (100s-1000s of units) are the most common genetic cause of amyotrophic lateral sclerosis (ALS ...
Dickson DW, Miller BL, Kretzschmar H, Lee VM, Van Deerlin VM, Trojanowski JQ, Gaig C, Schellenberg GD, Gearing M, Ho WY, Troncoso JC, Ling H, Ling SC, Cali CP, Morris CM, McLean CA, Tai YK, Ghetti B, Troakes C, White CL, Patino M, Mok KY, Roeber S, Vonsattel JPG, Lee EB, Seeley WW   +25 more
core