Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

R Chia, A Chiò, BJ Traynor - The Lancet Neurology, 2018 - thelancet.com
Background The disease course of amyotrophic lateral sclerosis (ALS) is rapid and,
because its pathophysiology is unclear, few effective treatments are available. Genetic …

Targeting autophagy, oxidative stress, and ER stress for neurodegenerative disease treatment

Y Esmaeili, Z Yarjanli, F Pakniya, E Bidram… - Journal of Controlled …, 2022 - Elsevier
Protein homeostasis is a vital process for cell function and, therefore, disruption of the
molecular mechanisms involved in this process, such as autophagy, may contribute to …

ALS genes in the genomic era and their implications for FTD

HP Nguyen, C Van Broeckhoven, J van der Zee - Trends in Genetics, 2018 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …

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 …

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

RC Hergesheimer, AA Chami, DR De Assis, P Vourc'h… - Brain, 2019 - academic.oup.com
Transactive response DNA-binding protein-43 (TDP-43) is an RNA/DNA binding protein that
forms phosphorylated and ubiquitinated aggregates in the cytoplasm of motor neurons in …

TBK1: a new player in ALS linking autophagy and neuroinflammation

JA Oakes, MC Davies, MO Collins - Molecular brain, 2017 - Springer
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder affecting
motor neurons, resulting in progressive muscle weakness and death by respiratory failure …

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

K Burk, RJ Pasterkamp - Acta neuropathologica, 2019 - Springer
Amyotrophic lateral sclerosis (ALS) is a progressive, adult-onset neurodegenerative disease
caused by degeneration of motor neurons in the brain and spinal cord leading to muscle …

Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …

Major review: Molecular genetics of primary open-angle glaucoma

Y Liu, RR Allingham - Experimental eye research, 2017 - Elsevier
Glaucoma is a leading cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), the most common type, is a complex inherited disorder that is …