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Publications

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

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), Neurobiology of Disease, 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

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 C9ORF72 mutations reveals disease-specific cellular phenotypes

Mutihac R. et al, (2015), Journal of the Neurological Sciences, 357, e48 - e48

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), Neurobiology of Disease, 75, 64 - 77

C9orf72 Hexanucleotide Expansion Mutations Alter Calcium Signalling in ALS-FTD Patient iPSC-Derived Motor Neurons

Mutihac R. et al, (2014), ANNALS OF NEUROLOGY, 76, S121 - S121

LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model

Alegre-Abarrategui J. et al, (2009), Human Molecular Genetics, 18, 4022 - 4034

Include forthcoming?