Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

Tania F. Gendron, Kevin F. Bieniek, Yong‐Jie Zhang, +13

Acta Neuropathologica

ChromatinNeurodegenerative DiseasesRna ProcessingAmyotrophic Lateral SclerosisNatural Sciences +12

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

Jie Jiang, Qiang Zhu, Tania F. Gendron, +38

Neuron

Natural SciencesAls/ftd-linked Repeat ExpansionsMolecular BiologyLong Non-coding RnaC9orf72 Is +3

<i>C9ORF72</i> repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

Jeannie Chew, Tania F. Gendron, Mercedes Prudencio, +23

Science

Mouse BrainsSynaptic SignalingSocial SciencesNeurobiology Of DiseaseExperimental Neuropathology +15

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Yong‐Jie Zhang, Karen Jansen‐West, Ya-Fei Xu, +18

Acta Neuropathologica

GeneticsAggregation-prone C9ftd/als PolyMolecular BiologyEr StressDegenerative Pathology +15

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Yong‐Jie Zhang, Tania F. Gendron, Mark Ebbert, +20

Nature Medicine

Amyotrophic Lateral SclerosisAlzheimer's DiseaseDementiaProtein TranslationStress Granule Dynamics +7

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

Yong‐Jie Zhang, Tania F. Gendron, Jonathan C. Grima, +32

Nature Neuroscience

Protein FunctionSignal TransductionNucleocytoplasmic Transport ProteinsMedicineNatural Sciences +9

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

Véronique Belzil, Peter Bauer, Mercedes Prudencio, +10

Acta Neuropathologica

Histone ModificationsEpigenetic ChangeGeneticsMolecular BiologyDisease Gene Identification +16

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

Jacqueline G. O’Rourke, Laurent Bogdanik, A.K.M. Ghulam Muhammad, +20

Neuron

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisDegenerative DiseaseNeurologyNeuroscience +5

Poly(GP) proteins are a useful pharmacodynamic marker for <i>C9ORF72</i> -associated amyotrophic lateral sclerosis

Tania F. Gendron, Jeannie Chew, Jeannette N. Stankowski, +75

Science Translational Medicine

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

Owen M. Peters, Gabriela Toro Cabrera, Hélène Tran, +23

Neuron

Knockout MouseBac Transgenic MiceNeurodegenerative DiseasesMolecular NeuroscienceGenetics +8