C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

J Amick, A Roczniak-Ferguson… - Molecular biology of the …, 2016 - Am Soc Cell Biol
Hexanucleotide expansion in an intron of the C9orf72 gene causes amyotrophic lateral
sclerosis and frontotemporal dementia. However, beyond bioinformatics predictions that …

[HTML][HTML] The genetics and neuropathology of frontotemporal lobar degeneration

A Sieben, T Van Langenhove, S Engelborghs… - Acta …, 2012 - Springer
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders
characterized by disturbances of behavior and personality and different types of language …

A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

J van der Zee, I Gijselinck, L Dillen… - Human …, 2013 - Wiley Online Library
We assessed the geographical distribution of C9orf72 G 4 C 2 expansions in a pan‐E
uropean frontotemporal lobar degeneration (FTLD) cohort (n= 1,205), ascertained by the E …

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

K Mori, S Lammich, IRA Mackenzie, I Forné… - Acta …, 2013 - Springer
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the
regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic …

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

ME Murray, M DeJesus-Hernandez, NJ Rutherford… - Acta …, 2011 - Springer
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are part of a
disease spectrum associated with TDP-43 pathology. Strong evidence supporting this is the …

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

J Simón-Sánchez, EGP Dopper, PE Cohn-Hokke… - Brain, 2012 - academic.oup.com
There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis
are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 …

TDP-43 pathology: from noxious assembly to therapeutic removal

SS Keating, R San Gil, MEV Swanson, EL Scotter… - Progress in …, 2022 - Elsevier
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

I Gijselinck, S Van Mossevelde, J Van Der Zee… - Neurology, 2015 - AAN Enterprises
Objective: To assess the genetic contribution of TBK1, a gene implicated in amyotrophic
lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and …

[HTML][HTML] rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues

Y Hu, J Sun, Y Zhang, H Zhang, S Gao, T Wang, Z Han… - BMC medicine, 2021 - Springer
Background It has been well established that the TMEM106B gene rs1990622 variant was a
frontotemporal dementia (FTD) risk factor. Until recently, growing evidence highlights the …

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD

W Pang, F Hu - Journal of neurochemistry, 2021 - Wiley Online Library
The hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the main cause of two
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …