ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

An update on genetic frontotemporal dementia

CV Greaves, JD Rohrer - Journal of neurology, 2019 - Springer
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders,
with around 30% of patients having a strong family history. The majority of that heritability is …

Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies

DR Beers, SH Appel - The Lancet Neurology, 2019 - thelancet.com
Neuroinflammation is a common pathological feature of many neurodegenerative diseases,
including amyotrophic lateral sclerosis (ALS), and is characterised by activated CNS …

The overlapping genetics of amyotrophic lateral sclerosis and frontotemporal dementia

YA Abramzon, P Fratta, BJ Traynor… - Frontiers in neuroscience, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two diseases
that form a broad neurodegenerative continuum. Considerable effort has been made to …

ALS-and FTD-associated missense mutations in TBK1 differentially disrupt mitophagy

O Harding, CS Evans, J Ye, J Cheung… - Proceedings of the …, 2021 - National Acad Sciences
TANK-binding kinase 1 (TBK1) is a multifunctional kinase with an essential role in
mitophagy, the selective clearance of damaged mitochondria. More than 90 distinct …

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 …

Development of disease-modifying drugs for frontotemporal dementia spectrum disorders

F Panza, M Lozupone, D Seripa, A Daniele… - Nature Reviews …, 2020 - nature.com
Frontotemporal dementia (FTD) encompasses a spectrum of clinical syndromes
characterized by progressive executive, behavioural and language dysfunction. The various …

Autophagic and endo-lysosomal dysfunction in neurodegenerative disease

BR Malik, DC Maddison, GA Smith, OM Peters - Molecular brain, 2019 - Springer
Due to their post-mitotic state, metabolic demands and often large polarised morphology, the
function and survival of neurons is dependent on an efficient cellular waste clearance …

Modelling amyotrophic lateral sclerosis in rodents

TW Todd, L Petrucelli - Nature Reviews Neuroscience, 2022 - nature.com
The efficient study of human disease requires the proper tools, one of the most crucial of
which is an accurate animal model that faithfully recapitulates the human condition. The …