Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Inflammasome assembly in neurodegenerative diseases

J Singh, ML Habean, N Panicker - Trends in Neurosciences, 2023 - cell.com
Neurodegenerative disorders are characterized by the progressive dysfunction and death of
selectively vulnerable neuronal populations, often associated with the accumulation of …

Cardiolipin, mitochondria, and neurological disease

M Falabella, HJ Vernon, MG Hanna… - Trends in Endocrinology …, 2021 - cell.com
Over the past decade, it has become clear that lipid homeostasis is central to cellular
metabolism. Lipids are particularly abundant in the central nervous system (CNS) where …

[HTML][HTML] Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

J Root, P Merino, A Nuckols, M Johnson… - Neurobiology of disease, 2021 - Elsevier
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

Neurovascular dysfunction in GRN-associated frontotemporal dementia identified by single-nucleus RNA sequencing of human cerebral cortex

E Gerrits, LAA Giannini, N Brouwer, S Melhem… - Nature …, 2022 - nature.com
Frontotemporal dementia (FTD) is the second most prevalent form of early-onset dementia,
affecting predominantly frontal and temporal cerebral lobes. Heterozygous mutations in the …

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

J Li, MK Jaiswal, JF Chien, A Kozlenkov, J Jung… - Nature …, 2023 - nature.com
A repeat expansion in the C9orf72 (C9) gene is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …

STING trafficking as a new dimension of immune signaling

D Jeltema, K Abbott, N Yan - Journal of Experimental Medicine, 2023 - rupress.org
The cGAS–STING pathway is an evolutionarily conserved immune signaling pathway critical
for microbial defense. Unlike other innate immune pathways that largely rely on stationary …

Redox dysregulation as a driver for DNA damage and its relationship to neurodegenerative diseases

S Shadfar, S Parakh, MS Jamali, JD Atkin - Translational …, 2023 - Springer
Redox homeostasis refers to the balance between the production of reactive oxygen species
(ROS) as well as reactive nitrogen species (RNS), and their elimination by antioxidants. It is …

Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …