Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the loss of both upper and lower motor neurons, leading to progressive paralysis. Both genetic alterations and epigene…
Tag: Amyotrophic Lateral Sclerosis
[ASAP] Muscle Matters: Transforming Amyotrophic Lateral Sclerosis Diagnostics with Next-Gen Biosensors and Smart Detection
Structural insights into the role of reduced cysteine residues in SOD1 amyloid filament formation
[In Context] Transforming amyotrophic lateral sclerosis into a liveable disease
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that remains incurable, despite decades of basic and clinical research. Key stakeholders—including the US National Academies of Sciences, Engineering, and Medicine (NASEM)—are focusing efforts on advancing ALS research and improving patient outcomes, to make ALS a liveable disease. In collaboration and consultation with people living with… Continue reading [In Context] Transforming amyotrophic lateral sclerosis into a liveable disease
[ASAP] Modulation of Mitochondria–Endoplasmic Reticulum Contacts (MERCs) by Small Molecules as a New Strategy for Restoring Lipid Metabolism in an Amyotrophic Lateral Sclerosis Model
Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion
The gene C9orf72 harbors a non-coding hexanucleotide repeat expansion known to cause amyotrophic lateral sclerosis and frontotemporal dementia. While previous studies have estimated the length of this repeat expa…
Private Medicare Plans Must Cover Biogen’s ALS Drug, US Agency Says
The Centers for Medicare & Medicaid Services has directed private insurers providing Medicare Advantage plans to cover Biogen’s amyotrophic lateral sclerosis drug… Reuters Health Information
Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in Zebrafish vps4a Mutants
Mutations in human VPS4A are associated with neurodevelopmental defects, including motor delays and defective muscle tone. VPS4A encodes a AAA-ATPase required for membrane scission, but how mutations in VPS4A lead to impaired control of motor function is not known. Here we identified a mutation in zebrafish vps4a, T248I, that affects sensorimotor transformation. Biochemical analyses indicate… Continue reading Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in Zebrafish vps4a Mutants
Barriers to Tofersen Therapy for Variant SOD1 -Mediated ALS
This Viewpoint advocates for the accelerated adoption of tofersen therapy to treat patients with variant SOD1-mediated amyotrophic lateral sclerosis (ALS) and describes the current barriers to treatment.
Human VCP mutant ALS/FTD microglia display immune and lysosomal phenotypes independently of GPNMB
Microglia play crucial roles in maintaining neuronal homeostasis but have been implicated in contributing to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, the role of microgli…