Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Sources, resolution and physiological relevance of R-loops and RNA–DNA hybrids

E Petermann, L Lan, L Zou - Nature reviews Molecular cell biology, 2022 - nature.com
RNA–DNA hybrids are generated during transcription, DNA replication and DNA repair and
are crucial intermediates in these processes. When RNA–DNA hybrids are stably formed in …

Cellular functions of the protein kinase ATM and their relevance to human disease

JH Lee, TT Paull - Nature Reviews Molecular Cell Biology, 2021 - nature.com
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …

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 …

Amyotrophic lateral sclerosis

O Hardiman, A Al-Chalabi, A Chio, EM Corr… - Nature reviews Disease …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …

Human ALS/FTD brain organoid slice cultures display distinct early astrocyte and targetable neuronal pathology

K Szebényi, LMD Wenger, Y Sun, AWE Dunn… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis overlap** with frontotemporal dementia (ALS/FTD) is a fatal
and currently untreatable disease characterized by rapid cognitive decline and paralysis …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Redox dysregulation as a driver for DNA damage and its relationship to neurodegenerative diseases

S Shadfar, S Parakh, MS Jamali, JD Atkin - Translational …, 2023 - Springer
Redox homeostasis refers to the balance between the production of reactive oxygen species
(ROS) as well as reactive nitrogen species (RNS), and their elimination by antioxidants. It is …

Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology

OJ Ziff, J Neeves, J Mitchell, G Tyzack… - Nature …, 2023 - nature.com
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97%
of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been …

Motor neuron susceptibility in ALS/FTD

AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …