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Publications

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), Nat Commun, 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), Sci Rep, 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), Front Cell Neurosci, 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), Neurobiol Dis, 144

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), Hum Mol Genet, 29, 2200 - 2217

Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.

Dafinca R. et al, (2020), Stem Cell Reports

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.

Gordon D. et al, (2019), Neurobiol Dis, 121, 148 - 162

C9orf72 and RAB7L1 regulate vesicle trafficking in amyotrophic lateral sclerosis and frontotemporal dementia.

Aoki Y. et al, (2017), Brain, 140, 887 - 897

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

Dafinca R. et al, (2016), Stem Cells, 34, 2063 - 2078

Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS

Scaber J. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 797 - 797

TDP-43 is cytoplasmically mislocalized and associated with impaired stress responses and survival of primary neurons from symptomatic amyotrophic lateral sclerosis (ALS) mice

Farrimond L. et al, (2016), EUROPEAN JOURNAL OF NEUROLOGY, 23, 390 - 391

Absence of wide-spread mis-splicing in the preclinical phase of a native promoter driven TDP-43 mouse model of ALS

Scaber J. et al, (2016), NEUROMUSCULAR DISORDERS, 26, S31 - S31

TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons.

Mutihac R. et al, (2015), Neurobiol Dis, 75, 64 - 77

Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansion

Aoki Y. et al, (2015), NEUROMUSCULAR DISORDERS, 25, S315 - S316

Modelling amyotrophic lateral sclerosis (ALS) using mutant and CAS9/CRISPR-corrected motor neurons from patients with C9ORE72 mutations reveals disease-specific cellular phenotypes

Mutihac R. et al, (2015), JOURNAL OF THE NEUROLOGICAL SCIENCES, 357, E48 - E48

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