[HTML][HTML] ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Autophagy as a promoter of longevity: insights from model organisms

M Hansen, DC Rubinsztein, DW Walker - Nature reviews Molecular cell …, 2018 - nature.com
Autophagy is a conserved process that catabolizes intracellular components to maintain
energy homeostasis and to protect cells against stress. Autophagy has crucial roles during …

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …

[PDF][PDF] Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

Neuroinflammation in frontotemporal dementia

F Bright, EL Werry, C Dobson-Stone, O Piguet… - Nature Reviews …, 2019 - nature.com
Frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative
disorders with different pathological signatures, genetic variability and complex disease …

p62 filaments capture and present ubiquitinated cargos for autophagy

G Zaffagnini, A Savova, A Danieli, J Romanov… - The EMBO …, 2018 - embopress.org
The removal of misfolded, ubiquitinated proteins is an essential part of the protein quality
control. The ubiquitin‐proteasome system (UPS) and autophagy are two interconnected …

Autophagy and human diseases

P Jiang, N Mizushima - Cell research, 2014 - nature.com
Autophagy is a major intracellular degradative process that delivers cytoplasmic materials to
the lysosome for degradation. Since the discovery of autophagy-related (Atg) genes in the …

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 …

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

A Al-Chalabi, LH Van Den Berg, J Veldink - Nature Reviews Neurology, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …

Autophagy in aging and longevity

SQ Wong, AV Kumar, J Mills, LR Lapierre - Human genetics, 2020 - Springer
Our understanding of the process of autophagy and its role in health and diseases has
grown remarkably in the last two decades. Early work established autophagy as a general …