Research area · week to 3 Oct 2026

Amyotrophic Lateral Sclerosis Research

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Progranulin deficiency-induced lysosomal dysfunction drives maladaptive myeloid cell states through the MITF/TFE transcription factors.
Immunity · 11 Aug 2026 · Journal Article
Progranulin deficiency causes lysosomal dysfunction that triggers maladaptive myeloid cell states via MITF/TFE transcription factors, impacting neurodegeneration.
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Gastroenterology · 1 Oct 2026 · Letter
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Generalizability of the MetALD-ALD Prediction Index in Asian Populations.
Gastroenterology · 1 Oct 2026 · Letter
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Single-cell profiling and genetic regulation of alternative polyadenylation in the human brain.
Nature Genetics · 30 Sept 2026 · Journal Article
Single-cell APA profiling in 2 million human brain cells reveals cell-type-specific genetic regulation linked to neurodegenerative diseases, including Alzheimer’s and Parkinson’s.
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Prion-like transmission of human tau strains in the mouse brain.
Nature · 30 Sept 2026 · Journal Article
Tau filaments from human Alzheimer's and corticobasal degeneration brains propagate in mice, maintaining their distinct structures and supporting prion-like transmission.
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Collapse of embryonic identities and emergence of functional diversity during motor neuron maturation.
Cell Reports · 30 Sept 2026 · Journal Article
Embryonic mouse skeletal motor neurons lose transcriptional diversity and re-diversify into adult subtypes to support functional maturation, with 70+ embryonic subclusters consolidating into distinct adult identities.
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Transcriptomic profiling uncovers mis-splicing and fusion transcripts in ALS
medRxiv · 30 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.02.05.26345503
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Prion Protein Deficiency Results in Synaptic, Neural Network and Behavioral Alterations
bioRxiv · 29 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.07.716931
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Calcium dysregulation amplifies fibrotic responses to TGFβ in human Friedreich's ataxia fibroblasts
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.21.753166
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Circulating extracellular vesicle lipidomics identifies distinct signatures of amyotrophic lateral sclerosis and spinal muscular atrophy
medRxiv · 24 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.23.26363372
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Ceperognastat in Alzheimer Disease: Lessons From a Negative Clinical Trial.
JAMA · 22 Sept 2026 · Comment
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Loss of interruption in the HTT CAG repeat is associated with somatic expansion and loss of medium spiny neurons in Huntington's disease.
Neuron · 14 Sept 2026 · Journal Article
Loss of interruption in the HTT CAG repeat correlates with increased somatic expansions and significant loss of medium spiny neurons in Huntington's disease.
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Targeting Nitric Oxide Synthase 2 Reverses Learning Deficits in an Oligodendrocyte-Focused Model of Costello Syndrome
bioRxiv · 11 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.01.729333
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Cellular modifiers of TDP-43 phase transition and cytoplasmic aggregation.
eLife · 8 Sept 2026 · Journal Article
Inhibition of nuclear export reduces pathogenic TDP-43 aggregation and phospho-TDP-43 accumulation in ALS models, highlighting nuclear transport as a key modulator.
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SynTEF1 restores the functional disease phenotype of SCA27B in an hiPSC-derived neuronal model
bioRxiv · 6 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2025.12.24.696231
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GLP-1 receptor agonist use is associated with shorter survival in patients with amyotrophic lateral sclerosis and diabetes mellitus
medRxiv · 6 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.05.05.25326993
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Vps35 p.D620N causes Lrrk2 kinase hyperactivity, chronic microglial activation and inflammation
bioRxiv · 3 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.09.710482
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NEK1 autophosphorylation is disrupted by amyotrophic lateral sclerosis-associated missense variants: activity biomarkers and structural insights
bioRxiv · 3 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.17.733013
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Recurrent patterns of TOP1-mediated neuronal genomic damage shared by major neurodegenerative disorders.
Cell · 3 Sept 2026 · Journal Article
Recurrent TOP1-mediated neuronal genomic damage occurs in over 60% of neurons across ALS, FTD, and AD, linking mutagenesis to neurodegeneration.
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https://jclub.com.au/a/42385702
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Assessment of ATXN2 Repeat Expansion Length and Risk of ALS: A Meta-Analysis
medRxiv · 2 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.01.09.26343811
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Dermal Phospho-Alpha-Synuclein Among Individuals With and Without Cerebrospinal Fluid Aggregated Alpha-Synuclein
medRxiv · 2 Sept 2026 · Preprint
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Genetic and epigenetic convergence at MOBP links ALS and PSP
bioRxiv · 1 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.25.714147
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Inhomogeneous Tau polymerization, core-shell organization, and seed formation during Tau condensate aging
bioRxiv · 1 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.18.711671
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Meta-analysis of glucose metabolism across Alzheimer's, Parkinson's and ALS reveals distinct patterns of cortical hypometabolism versus subcortical hypermetabolism with disease-specific spatial signatures
medRxiv · 31 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.07.26350339
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Phase separation behavior of TDP-43 governs its protein interactome and regulation of alternative splicing
bioRxiv · 28 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.06.716630
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Humanized APP is the primary determinant of regional brain volume in humanized APOE knock-in mice: a cross-sectional ex vivo MRI study
bioRxiv · 25 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.04.722764
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Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease.
Frontiers in Genetics · 24 Aug 2026 · Case Reports
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https://jclub.com.au/a/42703459
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Differential, not uniform, elevation of plasma neurofilament light and glial fibrillary acidic protein across acute psychiatric presentations: implications for biomarker interpretation in psychiatry
medRxiv · 24 Aug 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.11.19.25340633
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YTHDC1 functions as a molecular chaperone to suppress ALS-linked hnRNPA1 mutants from aggregation.
Nature Communications · 21 Aug 2026 · Journal Article
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https://jclub.com.au/a/42680774
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Exploring Machine Learning Models to Uncover Pathways in ALS Pathogenesis Using Immunohistochemical Features
medRxiv · 20 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2025.12.19.25342356
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Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report.
Frontiers in Genetics · 19 Aug 2026 · Case Reports
An elderly woman with bulbar-onset ALS and cerebellar symptoms carried an intermediate-length CACNA1A allele, marking the first such case reported in the Chinese population.
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