Publications
Nelson AT, Cicardi ME, Markandaiah SS, Han JY, Philp NJ, Welebob E, Haeusler AR, Pasinelli P, Manfredi G, Kawamata H, Trotti D. Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes. EMBO Rep. 2024 May;25(5):2479-2510. doi: 10.1038/s44319-024-00140-7. Epub 2024 Apr 29. PubMed PMID: 38684907; PubMed Central PMCID: PMC11094177.
Scopa C, Barnada SM, Cicardi ME, Singer M, Trotti D, Trizzino M. JUN upregulation drives aberrant transposable element mobilization, associated innate immune response, and impaired neurogenesis in Alzheimer's disease. Nat Commun. 2023 Dec 4;14(1):8021. doi: 10.1038/s41467-023-43728-8. PubMed PMID: 38049398; PubMed Central PMCID: PMC10696058.
Jensen BK, Schuldi MH, McAvoy K, Russell KA, Boehringer A, Curran BM, Krishnamurthy K, Wen X, Westergard T, Ma L, Haeusler AR, Edbauer D, Pasinelli P, Trotti D. Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment. EMBO Mol Med. 2020 May 8;12(5):e10722. doi: 10.15252/emmm.201910722. Epub 2020 Apr 29. PubMed PMID: 32347002; PubMed Central PMCID: PMC7207170.
Shi Y, Lin S, Staats KA, Li Y, Chang WH, Hung ST, Hendricks E, Linares GR, Wang Y, Son EY, Wen X, Kisler K, Wilkinson B, Menendez L, Sugawara T, Woolwine P, Huang M, Cowan MJ, Ge B, Koutsodendris N, Sandor KP, Komberg J, Vangoor VR, Senthilkumar K, Hennes V, Seah C, Nelson AR, Cheng TY, Lee SJ, August PR, Chen JA, Wisniewski N, Hanson-Smith V, Belgard TG, Zhang A, Coba M, Grunseich C, Ward ME, van den Berg LH, Pasterkamp RJ, Trotti D, Zlokovic BV, Ichida JK. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons. Nat Med. 2018 Mar;24(3):313-325. doi: 10.1038/nm.4490.
Westergard T, Jensen BK, Wen X, Cai J, Kropf E, Iacovitti L, Pasinelli P, Trotti D. Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD. Cell Rep. 2016 Oct 11;17(3):645-652. doi: 10.1016/j.celrep.2016.09.032. PubMed PMID: 27732842; PubMed Central PMCID: PMC5078984.
Peer-Reviewed Publications
- The nuclear import receptor Kapβ2 modifies neurotoxicity mediated by poly(GR) in C9orf72-linked ALS/FTD
- ARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification
- Glucose hypometabolism prompts RAN translation and exacerbates C9orf72-related ALS/FTD phenotypes
- EphrinB2 knockdown in cervical spinal cord preserves diaphragm innervation in a mutant SOD1 mouse model of ALS
- JUN upregulation drives aberrant transposable element mobilization, associated innate immune response, and impaired neurogenesis in Alzheimer’s disease
- Loss of PML nuclear bodies in familial amyotrophic lateral sclerosis-frontotemporal dementia
- C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress
- Differential response of C9orf72 transcripts following neuronal depolarization
- NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility
- A mouse model with widespread expression of the C9orf72-linked glycine–arginine dipeptide displays non-lethal ALS/FTD-like phenotypes
- Breakdown of the central synapses in C9orf72-linked ALS/FTD
- Altered Bioenergetics and Metabolic Homeostasis in Amyotrophic Lateral Sclerosis
- Targeting TNFα produced by astrocytes expressing amyotrophic lateral sclerosis-linked mutant fused in sarcoma prevents neurodegeneration and motor dysfunction in mice
- Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis
- Real-time fluorescent measurement of synaptic functions in models of amyotrophic lateral sclerosis
- Synaptic dysfunction induced by glycine-alanine dipeptides in C9orf72-ALS/FTD is rescued by SV2 replenishment
- Excess glutamate secreted from astrocytes drives upregulation of P-glycoprotein in endothelial cells in amyotrophic lateral sclerosis
- Repeat-associated non-AUG translation in C9orf72-ALS/FTD is driven by neuronal excitation and stress
- Mir126-5p downregulation facilitates axon degeneration and nmj disruption via a non–cell-autonomous mechanism in ALS
- Astrocytes expressing ALS-linked mutant FUS induce motor neuron death through release of tumor necrosis factor-alpha