Results 41 to 50 of about 14,543 (225)

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

Data_Sheet_1_The repeat length of C9orf72 is associated with the survival of amyotrophic lateral sclerosis patients without C9orf72 pathological expansions.pdf [PDF]

, 2022
ObjectiveTo explore whether the repeat lengths of the chromosome 9 open reading frame 72 (C9orf72) gene and the ataxin-2 (ATXN2) gene in amyotrophic lateral sclerosis (ALS) patients without C9orf72 repeat expansions confer a risk of ALS or survival ...
Ji He (40669), Yan Ma (88810), Nan Zhang (46264), Lu Tang (655389), Xiaolu Liu (731063), Dongsheng Fan (817016), Lu Chen (75170)   +6 more
core   +1 more source

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

C9orf72 knockout mice show age-dependent lethality. [PDF]

, 2016
A) Schematic representation of the generation of the C9orf72 KO mice. Diagram depicts the mouse C9orf72 wild-type allele, C9orf72 targeting cassette, and the KO allele after SOX-Cre recombination.
Justin Chu (732152), Yon Ju Ji (3359057), Janet Ugolino (3359054), Jiou Wang (267956), Karen Conchina (3359060), Akhilesh Pandey (14293), Raja Sekhar Nirujogi (841149), Anne Hamacher-Brady (177723), Nathan R. Brady (51959)   +8 more
core   +1 more source

Genetics of familial amyotrophic lateral sclerosis

Бюллетень сибирской медицины, 2021
To analyze results of the studies covering modern scientific views on the genetics of familial amyotrophic lateral sclerosis (FALS).We searched for full-text publications containing the key words “amyotrophic lateral sclerosis”, “FALS”, and “genetics” in
A. V. Savinova, N. A. Shnayder, R. F. Nasyrova   +2 more
doaj   +1 more source

Screening for C9ORF72 repeat expansion in FTLD [PDF]

Neurobiology of Aging, 2012
In the present study we aimed to determine the prevalence of C9ORF72 GGGGCC hexanucleotide expansion in our cohort of 53 frontotemporal lobar degeneration (FTLD) patients and 174 neurologically normal controls. We identified the hexanucleotide repeat, in the pathogenic range, in 4 (2 bv-frontotemporal dementia (FTD) and 2 FTD-amyotrophic lateral ...
Ferrari R, Mok K, Moreno JH, Cosentino S, Goldman J, PIETRINI, PIETRO, Mayeux R, Tierney MC, Kapogiannis D, Jicha GA, Murrell JR, Ghetti B, Wassermann EM, Grafman J, Hardy J, Huey ED, Momeni P.   +16 more
openaire   +3 more sources

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014
There was no family history of neuromuscular disease. Examination revealed weakness particularly in the lower limbs, hyperrefl exia, wasting and fas-ciculation. There was no sensory or cognitive impair-ment. A diagnosis of ALS was made following full neurological investigation.
Beer, Alexander M, Cooper-Knock, Johnathan, Higginbottom, Adrian, Highley, J Robin, Wharton, Stephen B, Ince, Paul G, Milano, Antonio, Jones, Ashley A, Al-Chalabi, Ammar, Kirby, Janine, Shaw, Pamela J   +10 more
openaire   +4 more sources

C9orf72 expansion disrupts ATM-mediated chromosomal break repair [PDF]

, 2017
Hexanucleotide repeat expansions represent the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the mechanisms by which such expansions cause neurodegeneration are poorly understood.
Herranz Martín, Saúl, Walker, Callum, El-Khamisy, Sherif F.   +2 more
core   +1 more source

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

Frontiers in Cellular Neuroscience, 2021
Amyotrophic Lateral Sclerosis (ALS) is a complex neurodegenerative disease caused by degeneration of motor neurons (MNs). ALS pathogenic features include accumulation of misfolded proteins, glutamate excitotoxicity, mitochondrial dysfunction at distal ...
Agnes L. Nishimura, Natalia Arias, Natalia Arias   +2 more
doaj   +1 more source

Loss of C9orf72 function leads to autoimmunity [PDF]

Annals of Translational Medicine, 2017
A widely held view for the etiology of autoimmune diseases is that environmental factors combined with a proper genetic background can cause the disease. Rare monogenic diseases with autoimmune manifestations combined with new technologies, such as whole exon genomic sequencing, has unearthed fascinating mechanisms of autoimmune diseases.
Sakkas, L.I., Bogdanos, D.P., Kousvelari, E.E.   +2 more
openaire   +3 more sources