Microglia in neuroinflammation and neurodegeneration: from understanding to therapy

L Muzio, A Viotti, G Martino - Frontiers in neuroscience, 2021 - frontiersin.org
Microglia are the resident macrophages of the central nervous system (CNS) acting as the
first line of defense in the brain by phagocytosing harmful pathogens and cellular debris …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Inflammation in ALS/FTD pathogenesis

ME McCauley, RH Baloh - Acta neuropathologica, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative diseases that overlap in their clinical presentation, pathology and …

C9ORF72: what it is, what it does, and why it matters

J Smeyers, EG Banchi, M Latouche - Frontiers in cellular …, 2021 - frontiersin.org
When the non-coding repeat expansion in the C9ORF72 gene was discovered to be the
most frequent cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …

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 …

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 …

Synaptic dysfunction in ALS and FTD: anatomical and molecular changes provide insights into mechanisms of disease

PA Gelon, PA Dutchak, CF Sephton - Frontiers in Molecular …, 2022 - frontiersin.org
Synaptic loss is a pathological feature of all neurodegenerative diseases including
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a disease of …

Interaction molecular QTL map** discovers cellular and environmental modifiers of genetic regulatory effects

S Kasela, F Aguet, S Kim-Hellmuth, BC Brown… - The American Journal of …, 2024 - cell.com
Bulk-tissue molecular quantitative trait loci (QTLs) have been the starting point for
interpreting disease-associated variants, and context-specific QTLs show particular …

The peripheral immune system and amyotrophic lateral sclerosis

PA McCombe, JD Lee, TM Woodruff… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease that is defined by
loss of upper and lower motor neurons, associated with accumulation of protein aggregates …

C9orf72 loss-of-function: a trivial, stand-alone or additive mechanism in C9 ALS/FTD?

E Braems, B Swinnen, L Van Den Bosch - Acta neuropathologica, 2020 - Springer
A repeat expansion in C9orf72 is responsible for the characteristic neurodegeneration in
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in a still unresolved …