Ruxandra Dafinca

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University of Oxford

United Kingdom

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Recent Grants

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Targeting intracellular transport and nucleocytoplasmic transport in motor neurons from ALS

Open Date: 2020-10-01

Close Date: 2022-09-01

Grant: Close

Investigating the effects of C9orf72 hexanucleotide expansions in stem cell derived motor and cortical neurons derived from ALS/FTD patients

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Articles (13)

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2025

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2024

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2023

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2022

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2022

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2022

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2021

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2021

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2020

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2020

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2020

Collaborators (6)

Alyssa N. Coyne

UNITED STATES

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Zheng Shi

Assistant Professor

Rutgers University

UNITED STATES

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Michael Ward

National Institutes of Health

UNITED STATES

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Jakub Scaber

University of Oxford

UNITED KINGDOM

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Kevin Talbot

University of Oxford

UNITED KINGDOM

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Dominik Priesmann

Technical University of Denmark

DENMARK

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Ruxandra Dafinca

Research Interests

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Recent Grants

Articles (13)

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

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

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

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

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

Poly(ADP-ribose) promotes toxicity of <i>C9ORF72</i> arginine-rich dipeptide repeat proteins

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

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

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

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

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

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

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

Collaborators (6)

Alyssa N. Coyne

Zheng Shi

Michael Ward

Jakub Scaber

Kevin Talbot

Dominik Priesmann

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