Mireia Carcole

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTD.

Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTD.

Journal: bioRxiv : the preprint server for biology
Published: October 01, 2025

C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia.

C9orf72 poly(glycine-alanine) knock-in mice exhibit mild rotarod and proteomic changes consistent with amyotrophic lateral sclerosis/frontotemporal dementia.

Journal: Brain communications
Published: June 12, 2025

Author Correction: Neuronal polyunsaturated fatty acids are protective in ALS/FTD.

Author Correction: Neuronal polyunsaturated fatty acids are protective in ALS/FTD.

Journal: Nature neuroscience
Published: March 07, 2025

Multi-modal comparative phenotyping of knock-in mouse models of frontotemporal dementia/amyotrophic lateral sclerosis.

Multi-modal comparative phenotyping of knock-in mouse models of frontotemporal dementia/amyotrophic lateral sclerosis.

Journal: Disease models & mechanisms
Published: February 18, 2025

Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradation.

Differential neuronal vulnerability to C9orf72 repeat expansion driven by Xbp1-induced endoplasmic reticulum-associated degradation.

Journal: Cell reports
Published: October 23, 2024

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.

Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids.

Journal: Acta neuropathologica communications
Published: August 21, 2024

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.

Journal: Nature communications
Published: January 23, 2024

Neuronal polyunsaturated fatty acids are protective in ALS/FTD.

Neuronal polyunsaturated fatty acids are protective in ALS/FTD.

Journal: Nature neuroscience
Published: January 22, 2024

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

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

Journal: Stem cell reports
Published: August 29, 2023

A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons.

A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons.

Journal: Cell reports
Published: June 21, 2023

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

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

Journal: Nature communications
Published: February 09, 2023

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.

Journal: Nature neuroscience
Published: February 08, 2023
Showing 1-12 of 14

Last Updated: 09/26/2026