[HTML][HTML] Mechanisms of Immune Activation by c9orf72-Expansions in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

KJ Trageser, C Smith, FJ Herman, K Ono… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative disorders with overlapping pathomechanisms, neurobehavioral features …

[HTML][HTML] Emerging Mechanisms Underpinning Neurophysiological Impairments in C9ORF72 Repeat Expansion-Mediated Amyotrophic Lateral Sclerosis …

IS Pasniceanu, MS Atwal, CDS Souza… - Frontiers in Cellular …, 2021 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are characterized by
degeneration of upper and lower motor neurons and neurons of the prefrontal cortex. The …

[HTML][HTML] Glial Cell Dysfunction in C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

M Ghasemi, K Keyhanian, C Douthwright - Cells, 2021 - mdpi.com
Since the discovery of the chromosome 9 open reading frame 72 (C9orf72) repeat
expansion mutation in 2011 as the most common genetic abnormality in amyotrophic lateral …

Inflammasome-Mediated Neuronal-Microglial Crosstalk: a Therapeutic Substrate for the Familial C9orf72 Variant of Frontotemporal Dementia/Amyotrophic Lateral …

KJ Trageser, EJ Yang, C Smith, R Iban-Arias… - Molecular …, 2023 - Springer
Intronic G4C2 hexanucleotide repeat expansions (HRE) of C9orf72 are the most common
cause of familial variants of frontotemporal dementia/amyotrophic lateral sclerosis …

Increased synthesis of pro-inflammatory cytokines in C9ORF72 patients

G Pinilla, A Kumar, MK Floaters, CA Pardo… - … Lateral Sclerosis and …, 2021 - Taylor & Francis
C9ORF72 hexanucleotide expansion is the most common genetic cause of familial
amyotrophic lateral sclerosis (ALS)/fronto-temporal dementia (FTD) disease spectrum. Even …

Insights into disease mechanisms and potential therapeutics for C9orf72-related amyotrophic lateral sclerosis/frontotemporal dementia

D Gagliardi, G Costamagna, M Taiana… - Ageing Research …, 2020 - Elsevier
In 2011, a hexanucleotide repeat expansion (HRE) in the noncoding region of C9orf72 was
associated with the most frequent genetic cause of frontotemporal dementia (FTD) and …

[HTML][HTML] 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 …

C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis

JD Lai, JK Ichida - Neuroscience Letters, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing disease that affects upper and
lower motor neurons eventually leading to paralysis and death by respiratory dysfunction …

[HTML][HTML] The development of C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia disorders

Q Yang, B Jiao, L Shen - Frontiers in genetics, 2020 - frontiersin.org
The expanded GGGGCC hexanucleotide repeat in the non-coding region of the C9orf72
gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and …

[HTML][HTML] Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

D Lall, RH Baloh - The Journal of clinical investigation, 2017 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder that is characterized by loss
of motor neurons and shows clinical, pathological, and genetic overlap with frontotemporal …