PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
C Milioto, M Carcolé, A Giblin, R Coneys, O Attrebi… - Nature …, 2024 - nature.com
Dipeptide repeat proteins are a major pathogenic feature of C9orf72 amyotrophic lateral
sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact …
sclerosis (C9ALS)/frontotemporal dementia (FTD) pathology, but their physiological impact …
Poly‐GP in cerebrospinal fluid links C9orf72‐associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD
C Lehmer, P Oeckl, JH Weishaupt, AE Volk… - EMBO Molecular …, 2017 - embopress.org
The C9orf72 GGGGCC repeat expansion is a major cause of amyotrophic lateral sclerosis
and frontotemporal dementia (c9 ALS/FTD). Non‐conventional repeat translation results in …
and frontotemporal dementia (c9 ALS/FTD). Non‐conventional repeat translation results in …
Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS
KD LaClair, Q Zhou, M Michaelsen, B Wefers… - Acta …, 2020 - Springer
Expansion of a (G 4 C 2) n repeat in C9orf72 causes amyotrophic lateral sclerosis (ALS) and
frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat …
frontotemporal dementia (FTD), but the link of the five repeat-encoded dipeptide repeat …
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation
D Lall, I Lorenzini, TA Mota, S Bell, TE Mahan… - Neuron, 2021 - cell.com
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …
Small molecule inhibition of PIKFYVE kinase rescues gain- and loss-of-function C9ORF72 ALS/FTD disease processes in vivo
The most common known cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a hexanucleotide repeat expansion (HRE) in C9ORF72 that contributes to …
dementia (FTD) is a hexanucleotide repeat expansion (HRE) in C9ORF72 that contributes to …
C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers
P Rizzu, C Blauwendraat, S Heetveld… - Acta neuropathologica …, 2016 - Springer
A non-coding hexanucleotide repeat expansion (HRE) in C9orf72 is a common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) acting through a loss …
Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS/FTD
B Khosravi, KD LaClair, H Riemenschneider… - The EMBO …, 2020 - embopress.org
The C9orf72 repeat expansion causes amyotrophic lateral sclerosis and frontotemporal
dementia, but the poor correlation between C9orf72‐specific pathology and TDP‐43 …
dementia, but the poor correlation between C9orf72‐specific pathology and TDP‐43 …
Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …
C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …
[HTML][HTML] p53 is a central regulator driving neurodegeneration caused by C9orf72 poly (PR)
M Maor-Nof, Z Shipony, R Lopez-Gonzalez… - Cell, 2021 - cell.com
The most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …
dementia (FTD) is a GGGGCC repeat expansion in the C9orf72 gene. We developed a …