ALS genetics: gains, losses, and implications for future therapies
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 …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
Macroautophagy in CNS health and disease
CJ Griffey, A Yamamoto - Nature Reviews Neuroscience, 2022 - nature.com
Macroautophagy is an evolutionarily conserved process that delivers diverse cellular
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
contents to lysosomes for degradation. As our understanding of this pathway grows, so does …
TDP-43 triggers mitochondrial DNA release via mPTP to activate cGAS/STING in ALS
Cytoplasmic accumulation of TDP-43 is a disease hallmark for many cases of amyotrophic
lateral sclerosis (ALS), associated with a neuroinflammatory cytokine profile related to …
lateral sclerosis (ALS), associated with a neuroinflammatory cytokine profile related to …
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 …
that form a broad neurodegenerative continuum. Considerable effort has been made to …
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 …
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …
Autophagy and ALS: mechanistic insights and therapeutic implications
JP Chua, H De Calbiac, E Kabashi, SJ Barmada - Autophagy, 2022 - Taylor & Francis
Mechanisms of protein homeostasis are crucial for overseeing the clearance of misfolded
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …
and toxic proteins over the lifetime of an organism, thereby ensuring the health of neurons …
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration
Frontotemporal dementia and amyotrophic lateral sclerosis (FTD-ALS) are associated with
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
both a repeat expansion in the C9orf72 gene and mutations in the TANK-binding kinase 1 …
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 …
mitophagy, the selective clearance of damaged mitochondria. More than 90 distinct …
Immunity in amyotrophic lateral sclerosis: Blurred lines between excessive inflammation and inefficient immune responses
LC Béland, A Markovinovic, H Jakovac… - Brain …, 2020 - academic.oup.com
Despite wide genetic, environmental and clinical heterogeneity in amyotrophic lateral
sclerosis, a rapidly fatal neurodegenerative disease targeting motoneurons …
sclerosis, a rapidly fatal neurodegenerative disease targeting motoneurons …
Genetics of amyotrophic lateral sclerosis
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …