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Ruxandra Dafinca

University of Oxford

United Kingdom

Has grant

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Research Interests

Cell Biology

60%

Biochemistry

20%

Neurodegenerative Disease

30%

Mitophagy

30%

Oxidative Stress

20%

Transgenic Animal Models

20%

Synaptic Biology

20%

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Recent Grants

Grant: Close

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

Open Date:

Close Date:

Articles13

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

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Year:

2025

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

Article Link

Year:

2024

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

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Year:

2024

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

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Year:

2023

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

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Year:

2023

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2021

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

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Year:

2021

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

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Year:

2020

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

Article Link

Year:

2020

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

Article Link

Year:

2020

Collaborators6

Alyssa N. Coyne

UNITED STATES

Zheng Shi

Assistant Professor

Rutgers University

UNITED STATES

Michael Ward

National Institutes of Health

UNITED STATES

Jakub Scaber

University of Oxford

UNITED KINGDOM

Kevin Talbot

University of Oxford

UNITED KINGDOM

Dominik Priesmann

Technical University of Denmark

DENMARK

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