Autophagy in major human diseases

DJ Klionsky, G Petroni, RK Amaravadi… - The EMBO …, 2021 - embopress.org
Autophagy is a core molecular pathway for the preservation of cellular and organismal
homeostasis. Pharmacological and genetic interventions impairing autophagy responses …

Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

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 …

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 …

Globally reduced N6-methyladenosine (m6A) in C9ORF72-ALS/FTD dysregulates RNA metabolism and contributes to neurodegeneration

Y Li, X Dou, J Liu, Y Xiao, Z Zhang, L Hayes, R Wu… - Nature …, 2023 - nature.com
Repeat expansion in C9ORF72 is the most common genetic cause of amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). Here we show that N 6 …

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 …

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 …

Gasdermin-E mediates mitochondrial damage in axons and neurodegeneration

DV Neel, H Basu, G Gunner, MD Bergstresser… - Neuron, 2023 - cell.com
Mitochondrial dysfunction and axon loss are hallmarks of neurologic diseases. Gasdermin
(GSDM) proteins are executioner pore-forming molecules that mediate cell death, yet their …

Non-neuronal cells in amyotrophic lateral sclerosis—from pathogenesis to biomarkers

BF Vahsen, E Gray, AG Thompson, O Ansorge… - Nature Reviews …, 2021 - nature.com
The prevailing motor neuron-centric view of amyotrophic lateral sclerosis (ALS)
pathogenesis could be an important factor in the failure to identify disease-modifying therapy …