Results 21 to 30 of about 21,720 (221)

Unaffected mosaic C9orf72 case [PDF]

Neurology, 2018
Suggested C9orf72 disease mechanisms for amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration include C9orf72 haploinsufficiency, G4C2/C4G2 RNA foci, and dipeptide repeat (DPR) proteins translated from the G4C2 expansion; however, the role of small expansions (e.g., 30-90 repeats) is unknown and was investigated here.We conducted a
McGoldrick, Philip, Zhang, Ming, van Blitterswijk, Marka, Sato, Christine, Moreno, Danielle, Xiao, Shangxi, Zhang, Ashley B., McKeever, Paul M., Weichert, Anna, Schneider, Raphael, Keith, Julia, Petrucelli, Leonard, Rademakers, Rosa, Zinman, Lorne, Robertson, Janice, Rogaeva, Ekaterina   +15 more
openaire   +2 more sources

The C9ORF72 repeat expansion alters neurodevelopment

Cell Reports, 2023
Genetic mutations that cause adult-onset neurodegenerative diseases are often expressed during embryonic stages, but it is unclear whether they alter neurodevelopment and how this might influence disease onset. Here, we show that the most common cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), a repeat expansion in ...
Eric Hendricks, Alicia M. Quihuis, Shu-Ting Hung, Jonathan Chang, Nomongo Dorjsuren, Balint Der, Kim A. Staats, Yingxiao Shi, Naomi S. Sta Maria, Russell E. Jacobs, Justin K. Ichida   +10 more
openaire   +3 more sources

The Genetics ofC9orf72Expansions [PDF]

Cold Spring Harbor Perspectives in Medicine, 2017
Repeat expansions in the promoter region of C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and related disorders of the ALS/frontotemporal lobar degeneration (FTLD) spectrum. Remarkable clinical heterogeneity among patients with a repeat expansion has been observed, and genetic anticipation over different generations ...
Gijselinck, Ilse, Cruts, Marc, Van Broeckhoven, Christine   +2 more
openaire   +3 more sources

RNA Misprocessing in C9orf72-Linked Neurodegeneration [PDF]

Frontiers in Cellular Neuroscience, 2017
A large GGGGCC hexanucleotide repeat expansion in the first intron or promoter region of the C9orf72 gene is the most common genetic cause of familial and sporadic Amyotrophic lateral sclerosis (ALS), a devastating degenerative disease of motor neurons, and of Frontotemporal Dementia (FTD), the second most common form of presenile dementia after ...
Barker, Holly V., Niblock, Michael, Lee, Youn-Bok, Shaw, Christopher E., Gallo, Jean-Marc   +4 more
openaire   +6 more sources

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum [PDF]

, 2014
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features.
A Giordano, AE Renton, BR Brooks, C Dobson-Stone, C Habas, C Lomen-Hoerth, C Mottolese, C Wedderburn, Carol Dobson-Stone, CJ Mahoney, CJ O'Halloran, CJ Stoodley, CJ Stoodley, CJ Stoodley, CJ Stoodley, CM Clark, D Seok Yi, DJ Irwin, DM Mezzapesa, E Mioshi, E Mioshi, E Mioshi, E Sbardella, EC Lauterbach, Emma Devenney, F Begeti, FA Middleton, FM Krienen, Glenda M. Halliday, GM Ringholz, H Baillieux, H Yoshida, HJ Rosen, HJ Rosen, J Kassubek, J Phukan, J Senda, Jan Kassubek, JD Schmahmann, JD Schmahmann, JH Balsters, JL Chang, JL Whitwell, JL Whitwell, JL Whitwell, JLR Andersson, JM Cedarbaum, John B. Kwok, John R. Hodges, JR Burrell, JS Snowden, JX O'Reilly, K Rascovsky, KA Josephs, L Thivard, LT Takada, M Irish, M Neumann, Matthew C. Kiernan, MC Kiernan, Michael Hornberger, MJ Strong, MP Alexander, MR Turner, O Hardiman, P Lillo, P Lillo, P McColgan, R Villanueva, Rachel H. Tan, RM Kelly, SM Smith, SM Smith, T Kanda, TE Nichols, TH Bak, V Garibotto, WW Seeley, Y Zhang, Z Chen, Z Terpening   +80 more
core   +11 more sources

The C9ORF72 mutation brings more answers and more questions. [PDF]

, 2013
The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
core   +1 more source

A toxic gain-of-function mechanism in C9orf72 ALS impairs the autophagy-lysosome pathway in neurons

Acta Neuropathologica Communications, 2023
Background Motor neurons (MNs), which are primarily affected in amyotrophic lateral sclerosis (ALS), are a specialized type of neurons that are long and non-dividing. Given their unique structure, these cells heavily rely on transport of organelles along
Jimmy Beckers, Arun Kumar Tharkeshwar, Laura Fumagalli, Matilde Contardo, Evelien Van Schoor, Raheem Fazal, Dietmar Rudolf Thal, Siddharthan Chandran, Renzo Mancuso, Ludo Van Den Bosch, Philip Van Damme   +10 more
doaj   +1 more source

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene. [PDF]

, 2017
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two apparently distinct neurodegenerative diseases, the former characterized by selective loss of motor neurons in the brain and spinal cord and the latter characterized by ...
Pasinelli, Piera, Trotti, Davide, Wen, Xinmei, Westergard, Thomas   +3 more
core   +2 more sources

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 [PDF]

Acta Neuropathologica, 2015
The loss of chromosome 9 open reading frame 72 (C9ORF72) expression, associated with C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 transcript variants have been described thus far; the GGGGCC repeat is located between two non-coding exons (exon 1a and exon 1b) in the promoter region of transcript variant 2 (NM_018325.4)
van Blitterswijk, Marka, Gendron, Tania F, Baker, Matthew C, DeJesus-Hernandez, Mariely, Finch, NiCole A, Brown, Patricia H, Daughrity, Lillian M, Murray, Melissa E, Heckman, Michael G, Jiang, Jie, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Petrucelli, Leonard, Boeve, Bradley F, Graff-Radford, Neill R, Boylan, Kevin B, Dickson, Dennis W, Rademakers, Rosa   +22 more
openaire   +4 more sources

Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features

Frontiers in Cellular Neuroscience, 2023
While motor and cortical neurons are affected in C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD), it remains largely unknown if and how non-neuronal cells induce or exacerbate neuronal damage. We differentiated C9orf72 ALS/FTD
Ileana Lorenzini, Eric Alsop, Jennifer Levy, Lauren M. Gittings, Deepti Lall, Benjamin E. Rabichow, Stephen Moore, Stephen Moore, Ryan Pevey, Ryan Pevey, Lynette M. Bustos, Lynette M. Bustos, Camelia Burciu, Divya Bhatia, Mo Singer, Justin Saul, Amanda McQuade, Amanda McQuade, Amanda McQuade, Makis Tzioras, Makis Tzioras, Thomas A. Mota, Amber Logemann, Jamie Rose, Jamie Rose, Sandra Almeida, Fen-Biao Gao, Michael Marks, Christopher J. Donnelly, Elizabeth Hutchins, Shu-Ting Hung, Justin Ichida, Robert Bowser, Tara Spires-Jones, Tara Spires-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Mathew Blurton-Jones, Tania F. Gendron, Tania F. Gendron, Robert H. Baloh, Robert H. Baloh, Kendall Van Keuren-Jensen, Rita Sattler   +43 more
doaj   +1 more source