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C9orf72 in myeloid cells prevents an inflammatory response to microbial glycogen

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The DAXX tax: C9orf72 DNA repeat expansions drive gain- and loss-of-function pathology in c9FTD/ALS

Liu, F., & Rossoll, W. (2023) · Neuron · doi:10.1016/j.neuron.2023.03.028 · Cited by 2

Linking ALS mutations to the disruption of the MHC-II pathway

Zhang, Z., & Sun, S. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2315240120 · Cited by 2

Inhibition of PolyGA Dipeptide Repeat Protein Aggregation by Nucleic Acid Aptamers in C9 Amyotrophic Lateral Sclerosis-Frontotemporal Dementia Models

Jain, S., Das, D., Mukherjee, A., & Roy, I. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05075-1 · Cited by 4

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

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Hippocampal protein aggregation signatures fully distinguish pathogenic and wildtype UBQLN2 in amyotrophic lateral sclerosisPreprint

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n-Butylidenephthalide recovered calcium homeostasis to ameliorate neurodegeneration of motor neurons derived from amyotrophic lateral sclerosis iPSCs

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Histone Post-Translational Modifications and DNA Double-Strand Break Repair in Neurodegenerative Diseases: An Epigenetic Perspective

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rs56405341 Variant Associates with Expression of C4orf33 and C4orf33 Was Downregulated in Alzheimer’s Disease and Progressive Supranuclear Palsy

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Flight to insight: maximizing the potential of Drosophila models of C9orf72-FTD

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Unveiling RNA Dysfunction: A Key Player in Neurodegeneration

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The role of spatial arrangement of aromatic rings on the binding of N , N ′-diheteroaryl guanidine ligands to the G2C4/G2C4 motif DNA

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Antisense Oligonucleotides for Amyotrophic Lateral Sclerosis

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Of mice and men: What a mouse model of microglial C9ORF72 deficiency does—and does not—tell us about human neurodegenerative diseases

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Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neuronsPreprint

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Pinpointing protein as the problem

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A repeating theme in amyotrophic lateral sclerosis genetics

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Unraveling molecular biology of C9ORF72 repeat expansions in amyotrophic lateral sclerosis-frontotemporal dementia: Implications for therapy

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Structural basis for the ARF GAP activity and specificity of the C9orf72 complexPreprint

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RNA-Mediated Metabolic Defects in Microsatellite Expansion Diseases

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FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTDPreprint

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Inhibiting toxicity of ALS-linked dipeptide repeat proteins by polystyrene sulfonate (PSS)Preprint

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Caracterización clínica y genética de una cohorte de pacientes colombianos con el espectro clínico de la Demencia frontotemporal

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FUS regulates RAN translation through modulating the G-quadruplex structure of GGGGCC repeat RNA in C9orf72-linked ALS/FTDPreprint

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Additional file 2 of Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation

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

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Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia

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Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs

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Realizing the gains and losses in C9ORF72 ALS/FTD

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Characterization of C9orf72 function in autophagy and RNA metabolism

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