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 …

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 lysosome as a cellular centre for signalling, metabolism and quality control

RE Lawrence, R Zoncu - Nature cell biology, 2019 - nature.com
Long known as terminal degradation stations, lysosomes have emerged as sophisticated
signalling centres that govern cell growth, division and differentiation. Lysosomes interface …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

The mammalian ULK1 complex and autophagy initiation

M Zachari, IG Ganley - Essays in biochemistry, 2017 - portlandpress.com
Autophagy is a vital lysosomal degradation pathway that serves as a quality control
mechanism. It rids the cell of damaged, toxic or excess cellular components, which if left to …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

Autophagy and neurodegeneration: pathogenic mechanisms and therapeutic opportunities

FM Menzies, A Fleming, A Caricasole, CF Bento… - Neuron, 2017 - cell.com
Autophagy is a conserved pathway that delivers cytoplasmic contents to the lysosome for
degradation. Here we consider its roles in neuronal health and disease. We review …

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Y Shi, S Lin, KA Staats, Y Li, WH Chang, ST Hung… - Nature medicine, 2018 - nature.com
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …

[HTML][HTML] The role of mitochondria in amyotrophic lateral sclerosis

EF Smith, PJ Shaw, KJ De Vos - Neuroscience letters, 2019 - Elsevier
Mitochondria are unique organelles that are essential for a variety of cellular processes
including energy metabolism, calcium homeostasis, lipid biosynthesis, and apoptosis …

Inflammation in ALS/FTD pathogenesis

ME McCauley, RH Baloh - Acta neuropathologica, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are
neurodegenerative diseases that overlap in their clinical presentation, pathology and …