Autophagy in major human diseases
Autophagy is a core molecular pathway for the preservation of cellular and organismal
homeostasis. Pharmacological and genetic interventions impairing autophagy responses …
homeostasis. Pharmacological and genetic interventions impairing autophagy responses …
Molecular mechanisms underlying nucleotide repeat expansion disorders
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 …
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 …
which are polymorphic by nature and become highly unstable in a length-dependent …
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 …
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 …
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
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 …
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 …
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 …
in degrading cellular waste. The lysosome is now recognized as a highly dynamic organelle …
Gasdermin-E mediates mitochondrial damage in axons and neurodegeneration
Mitochondrial dysfunction and axon loss are hallmarks of neurologic diseases. Gasdermin
(GSDM) proteins are executioner pore-forming molecules that mediate cell death, yet their …
(GSDM) proteins are executioner pore-forming molecules that mediate cell death, yet their …
Non-neuronal cells in amyotrophic lateral sclerosis—from pathogenesis to biomarkers
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 …
pathogenesis could be an important factor in the failure to identify disease-modifying therapy …