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Search results (27)

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Extracellular vesicles in TDP-43 proteinopathies: pathogenesis and biomarker potential

Dellar ER. et al, (2025), Molecular Neurodegeneration, 20

High-throughput screen of 100 000 small molecules in C9ORF72 ALS neurons identifies spliceosome modulators that mobilize G4C2 repeat RNA into nuclear export and repeat associated non-canonical translation

Luteijn MJ. et al, (2025), Nucleic Acids Research, 53

Targeted BDNF upregulation via upstream open reading frame disruption

Feng N. et al, (2025)

Proteome Aggregation in Cells Derived from Amyotrophic Lateral Sclerosis Patients for Personalized Drug Evaluation

Pérez de la Lastra Aranda C. et al, (2024), ACS Chemical Neuroscience, 15, 3945 - 3953

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons

Dafinca R. et al, (2024), Brain Communications, 6

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons

Scaber J. et al, (2024), Stem Cell Reports, 19, 957 - 972

Mutant GGGGCC RNA prevents YY1 from binding to Fuzzy promoter which stimulates Wnt/β-catenin pathway in C9ALS/FTD.

Chen ZS. et al, (2023), Nat Commun, 14

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

Vahsen BF. et al, (2023), Nature Communications, 14

Poly(ADP-ribose) promotes toxicity of C9ORF72 arginine-rich dipeptide repeat proteins.

Gao J. et al, (2022), Sci Transl Med, 14

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons

Vahsen BF. et al, (2022), Scientific Reports, 12

Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation

Giacomelli E. et al, (2022), Cell Stem Cell, 29, 11 - 35

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins.

Altman T. et al, (2021), Nat Commun, 12

The Role of Mitochondrial Dysfunction and ER Stress in TDP-43 and C9ORF72 ALS

Dafinca R. et al, (2021), Frontiers in Cellular Neuroscience, 15

An ALS-linked mutation in TDP-43 disrupts normal protein interactions in the motor neuron response to oxidative stress

Feneberg E. et al, (2020), Neurobiology of Disease, 144, 105050 - 105050

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

Ababneh NA. et al, (2020), Human Molecular Genetics, 29, 2200 - 2217

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