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 …

The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS)

SL Boddy, I Giovannelli, M Sassani, J Cooper-Knock… - BMC medicine, 2021 - Springer
Background Much progress has been made in mapping genetic abnormalities linked to
amyotrophic lateral sclerosis (ALS), but the majority of cases still present with no known …

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …

Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

K Szebényi, LMD Wenger, Y Sun, AWE Dunn… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis overlapping with frontotemporal dementia (ALS/FTD) is a fatal
and currently untreatable disease characterized by rapid cognitive decline and paralysis …

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 …

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 …

From multi-omics approaches to precision medicine in amyotrophic lateral sclerosis

G Morello, S Salomone, V D'Agata… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a devastating and fatal neurodegenerative disorder,
caused by the degeneration of upper and lower motor neurons for which there is no truly …

Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD

SS Pineda, H Lee, MJ Ulloa-Navas, RM Linville… - Cell, 2024 - cell.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) share
many clinical, pathological, and genetic features, but a detailed understanding of their …

Loss of PML nuclear bodies in familial amyotrophic lateral sclerosis-frontotemporal dementia

F Antoniani, M Cimino, L Mediani, J Vinet… - Cell death …, 2023 - nature.com
Abstract Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) are two
neurodegenerative disorders that share genetic causes and pathogenic mechanisms. The …

Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions

R Hasan, J Humphrey, C Bettencourt, J Newcombe… - Acta …, 2022 - Springer
Frontotemporal lobar degeneration (FTLD) is a group of heterogeneous neurodegenerative
disorders affecting the frontal and temporal lobes of the brain. Nuclear loss and cytoplasmic …