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) …

The amyotrophic lateral sclerosis exposome: recent advances and future directions

SA Goutman, MG Savelieff, DG Jang, J Hur… - Nature Reviews …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal disease of motor neuron degeneration with
typical survival of only 2–5 years from diagnosis. The causes of ALS are multifactorial …

Current state and future directions in the therapy of ALS

L Tzeplaeff, S Wilfling, MV Requardt, M Herdick - Cells, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder
affecting upper and lower motor neurons, with death resulting mainly from respiratory failure …

Nutritional and metabolic factors in amyotrophic lateral sclerosis

A Ludolph, L Dupuis, E Kasarskis, F Steyn… - Nature Reviews …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease that is
classically thought to impact the motor system. Over the past 20 years, research has started …

[HTML][HTML] Phase 1/2a clinical trial in ALS with ropinirole, a drug candidate identified by iPSC drug discovery

S Morimoto, S Takahashi, D Ito, Y Daté, K Okada… - Cell Stem Cell, 2023 - cell.com
Summary iPSC-based drug discovery led to a phase 1/2a trial of ropinirole in ALS. 20
participants with sporadic ALS received ropinirole or placebo for 24 weeks in the double …

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

B Jadhav, P Garg, JJFA van Vugt, K Ibanez… - Nature Genetics, 2024 - nature.com
GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene
silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset …

Lipids shape brain function through ion channel and receptor modulations: physiological mechanisms and clinical perspectives

S Incontro, ML Musella, M Sammari… - Physiological …, 2025 - journals.physiology.org
Lipids represent the most abundant molecular type in the brain, with a fat content of∼ 60%
of the dry brain weight in humans. Despite this fact, little attention has been paid to …

[HTML][HTML] Advancing personalized medicine in neurodegenerative diseases: The role of epigenetics and pharmacoepigenomics in pharmacotherapy

C Griñán-Ferré, A Bellver-Sanchis, A Guerrero… - Pharmacological …, 2024 - Elsevier
About 80% of brain disorders have a genetic basis. The pathogenesis of most
neurodegenerative diseases is associated with a myriad of genetic defects, epigenetic …

Microglial crosstalk with astrocytes and immune cells in amyotrophic lateral sclerosis

M Calafatti, G Cocozza, C Limatola… - Frontiers in …, 2023 - frontiersin.org
In recent years, biomedical research efforts aimed to unravel the mechanisms involved in
motor neuron death that occurs in amyotrophic lateral sclerosis (ALS). While the main …

Innate immune activation in neurodegenerative diseases

S Castro-Gomez, MT Heneka - Immunity, 2024 - cell.com
Activation of the innate immune system following pattern recognition receptor binding has
emerged as one of the major pathogenic mechanisms in neurodegenerative disease …