Lysosomal dysfunction in neurodegeneration: emerging concepts and methods

V Udayar, Y Chen, E Sidransky, R Jagasia - Trends in neurosciences, 2022 - cell.com
The understanding of lysosomes has come a long way since the initial discovery of their role
in degrading cellular waste. The lysosome is now recognized as a highly dynamic organelle …

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 …

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

H Tran, MP Moazami, H Yang, D McKenna-Yasek… - Nature medicine, 2022 - nature.com
Expansions of a G4C2 repeat in the C9ORF72 gene are the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating …

[HTML][HTML] CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro

KE Meijboom, A Abdallah, NP Fordham… - Nature …, 2022 - nature.com
A GGGGCC24+ hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the most
common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …

[HTML][HTML] Antisense Oligonucleotides for the Study and Treatment of ALS

BD Boros, KM Schoch, CJ Kreple, TM Miller - Neurotherapeutics, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …

[HTML][HTML] Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation

E Giacomelli, BF Vahsen, EL Calder, Y Xu, J Scaber… - Cell Stem Cell, 2022 - cell.com
Neurodegenerative diseases are characterized by progressive cell loss leading to disruption
of the structure and function of the central nervous system. Amyotrophic lateral sclerosis …

Roles of PIKfyve in multiple cellular pathways

P Rivero-Ríos, LS Weisman - Current Opinion in Cell Biology, 2022 - Elsevier
Phosphoinositide signaling lipids are crucial for eukaryotes and regulate many aspects of
cell function. These signaling molecules are difficult to study because they are extremely low …

[HTML][HTML] Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll… - Neuron, 2022 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …

[HTML][HTML] NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

AM Gleixner, BM Verdone, CG Otte… - Nature …, 2022 - nature.com
Abstract A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common
genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions …

[HTML][HTML] Gene therapy in amyotrophic lateral sclerosis

T Fang, G Je, P Pacut, K Keyhanian, J Gao, M Ghasemi - Cells, 2022 - mdpi.com
Since the discovery of Cu/Zn superoxide dismutase (SOD1) gene mutation, in 1993, as the
first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been …