Amyotrophic lateral sclerosis

EL Feldman, SA Goutman, S Petri, L Mazzini… - The Lancet, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …

Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Stress granules and neurodegeneration

B Wolozin, P Ivanov - Nature Reviews Neuroscience, 2019 - nature.com
Recent advances suggest that the response of RNA metabolism to stress has an important
role in the pathophysiology of neurodegenerative diseases, particularly amyotrophic lateral …

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 role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

M Hallegger, AM Chakrabarti, FCY Lee, BL Lee… - Cell, 2021 - cell.com
Mutations causing amyotrophic lateral sclerosis (ALS) often affect the condensation
properties of RNA-binding proteins (RBPs). However, the role of RBP condensation in the …

Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

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 …

Gene therapy for ALS: A review

DA Amado, BL Davidson - Molecular Therapy, 2021 - cell.com
Amyotrophic lateral sclerosis (ALS) has historically posed unique challenges for gene-
therapy-based approaches, due to a paucity of therapeutic targets as well as the difficulty of …