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 …
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 …
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 …
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
Genetic analysis revealed the hexanucleotide repeat expansion GGGGCC within the
regulatory region of the gene C9orf72 as the most common cause of familial amyotrophic …
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 …
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 …
are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 …
TDP-43 pathology: from noxious assembly to therapeutic removal
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …
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 …
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 …
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 …
tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and …