Amyotrophic Lateral Sclerosis Research

This study uses optogenetic tools to show that TDP-43 oligomerization in zebrafish motor neurons leads to both acute and long-term ALS-related pathologies.

The paper identifies eRF1 and NMD as modifiers of C9orf72 repeat expansion toxicity by analyzing nucleocytoplasmic proteomic changes in ALS/FTD.

The paper identifies TRAF6 as an interactor of misfolded SOD1 in ALS, showing it promotes aggregation through ubiquitination.

This study uses computational methods to identify AIM4's binding site on TDP-43 and shows it inhibits LLPS of a TDP-43 mutant in vitro.

This study shows that an ALS-associated FUS mutation disrupts synaptic vesicle docking and neuromuscular transmission in C. elegans.

This study investigates altered glucose-fatty acid flux in ALS using mouse models and patient-derived myotubes, finding increased fatty acid oxidation linked to slower disease progression but with metabolic heterogeneity across patients.

This study uses MRI to show cerebral atrophy patterns in ALS patients, linking them to clinical disability and a proposed pathological staging model.

The paper identifies FIS1 as a genetic interactor of C9ORF72 through a synthetic lethal CRISPR screen in human myeloid cells, revealing a role for FIS1 in suppressing inflammatory signaling.

The paper identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

This study shows that Cdc48/VCP and endocytosis regulate TDP-43 and FUS toxicity and turnover in yeast and ALS patient tissue.

This study shows that shortened TDP43 isoforms, upregulated by neuronal hyperactivity, drive TDP43 pathology in ALS by forming cytoplasmic inclusions and sequestering full-length TDP43.

The paper validates antibodies against the C9ORF72 protein, finding one specific monoclonal antibody and highlighting issues with others used in published studies.

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.

The paper identifies early proprioceptive sensory neuron impairments in SOD1G93A mice, showing Nav1.6 channel deficits and reflexive defects in ALS.

This study systematically mutates the prion-like domain of TDP-43 to determine how sequence changes affect cellular toxicity and aggregation, finding that increased aggregation reduces toxicity.

This study shows that modulating actin polymerization affects nucleocytoplasmic transport in ALS, with potential therapeutic implications.

The paper surveys Canadian health professionals' attitudes and intentions toward recommending exercise for people living with ALS, finding low confidence and infrastructure as major barriers.

The paper shows that CREST toxicity in yeast and flies is reduced by PBP1/ATXN2 deletion, suggesting ATXN2 as a therapeutic target for ALS.

This study shows that skeletal muscle MRI can distinguish between SBMA and ALS and is linked to disease severity.

The paper introduces a data browser for Project MinE, providing open-access whole-genome sequencing data from ALS patients and controls to support research without requiring advanced bioinformatics skills.

The paper introduces VariantKey, a reversible numerical encoding for genetic variants, and presents compounds that inhibit stress granule formation and TDP-43 accumulation in ALS/FTD models.

The paper shows that increased glycolysis is neuroprotective in ALS by improving locomotion and lifespan in Drosophila models through glucose transporter and PFK overexpression.

The paper identifies proteostatic differences between ALS-resistant and sensitive motor neurons using stem cell-derived models.

This study uses genetic methods to assess if higher BMI causes amyotrophic lateral sclerosis, finding no causal link.

The paper identifies the PAF1 complex as a mediator of expanded GGGGCC repeat transcription in C9orf72-associated FTD, showing its role in RNA toxicity and disease progression.

The paper shows that FUS/TLS translocates from the nucleus to the cytoplasm during excitotoxic stress via a calcium-dependent mechanism and is required for Gria2 mRNA processing.

This study generates oculomotor neurons from mouse stem cells and shows they are more resilient to ALS-like toxicity than spinal motor neurons.

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

The paper develops SPiQE, an automated tool to detect and characterize fasciculations in ALS using HDSEMG data, achieving high sensitivity and specificity.

This study investigates white matter degeneration in the perforant path of ALS patients using diffusion MRI, polarized light imaging, and immunohistochemistry, finding significant changes in fractional anisotropy and myelin density.