Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

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Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

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Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

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Differentiation of Human Neural Stem Cells into Motor Neurons Stimulates Mitochondrial Biogenesis and Decreases Glycolytic Flux

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C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

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GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

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C9orf72 -derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

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Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72 -ALS/FTD

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Modulation of actin polymerization affects nucleocytoplasmic transport in multiple forms of amyotrophic lateral sclerosis

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C9orf72 is differentially expressed in the central nervous system and myeloid cells and consistently reduced in C9orf72, MAPT and GRN mutation carriers

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TFEB/Mitf links impaired nuclear import to autophagolysosomal dysfunction in C9-ALS

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DOI 10.1007/s00401-013-1149-y ORIGINAL PAPER Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC‑derived human neurons

DeGroot, S. R., Sellier, C., Karydas, A., Seeley, W. W., Boxer, A. L., Petrucelli, L., & Miller, B. L. (2016)

Stem cell models of C9orf72-linked Frontotemporal Dementia

Preza, E. (2020) · UCL Discovery (University College London)

O1–01–06: Human stem cell models of frontotemporal dementia caused by a non‐coding hexanucleotide repeat expansion in C9ORF72

Wray, S., Preza, E., Rollinson, S. J., Ryten, M., Isaacs, A. M., Houlden, H., Rossor, M. N., Chiò, A., Morris, H. R., Pickering-Brown, S. M., et al. (2013) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2013.04.054

Generation of Non-Integrating iPS Cells and Motor Neurons from C9orf72 Repeat Expansion Amyotrophic Lateral Sclerosis Patients (S06.003)

Baloh, R. H., Sareen, D., Gire, J., Ornelas, L., Grant, S., Simpkinson, M., Bell, S., Sahabian, A., Harms, M. B., & Svendsen, C. N. (2013) · Neurology · doi:10.1212/wnl.80.7_supplement.s06.003

Modeling the C9ORF72 repeat expansion mutation using human induced pluripotent stem cells

Selvaraj, B. T., Livesey, M. R., & Chandran, S. (2017) · Brain Pathology · doi:10.1111/bpa.12520 · Cited by 15 · see citing works