A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration DA Solomon, A Stepto, WH Au, Y Adachi, DC Diaper, R Hall, A Rekhi, ... Brain 141 (10), 2908-2924, 2018 | 95 | 2018 |
Stall in canonical autophagy-lysosome pathways prompts nucleophagy-based nuclear breakdown in neurodegeneration O Baron, A Boudi, C Dias, M Schilling, A Nölle, G Vizcay-Barrena, ... Current biology 27 (23), 3626-3642. e6, 2017 | 60 | 2017 |
Di-valent siRNA-mediated silencing of MSH3 blocks somatic repeat expansion in mouse models of Huntington’s disease D O'Reilly, J Belgrad, C Ferguson, A Summers, E Sapp, C McHugh, ... Molecular Therapy 31 (6), 1661-1674, 2023 | 16 | 2023 |
Chemical engineering of therapeutic siRNAs for allele-specific gene silencing in Huntington’s disease models F Conroy, R Miller, JF Alterman, MR Hassler, D Echeverria, ... Nature communications 13 (1), 5802, 2022 | 15 | 2022 |
Impaired XK recycling for importing manganese underlies striatal vulnerability in Huntington's disease G Chhetri, Y Ke, P Wang, M Usman, Y Li, E Sapp, J Wang, A Ghosh, ... Journal of Cell Biology 221 (10), e202112073, 2022 | 7 | 2022 |
Age-dependent increase in tau phosphorylation at serine 396 in Huntington’s disease prefrontal cortex T Petrozziello, SS Huntress, AL Castillo-Torres, JP Quinn, TR Connors, ... Journal of Huntington's Disease, 1-15, 2023 | 2 | 2023 |
Levels of synaptic proteins in brain and neurofilament light chain in cerebrospinal fluid and plasma of OVT73 Huntington’s disease sheep support a prodromal disease state E Sapp, A Boudi, SJ Reid, BA Trombetta, P Kivisäkk, T Taghian, ... Journal of Huntington's Disease, 1-13, 2023 | 1 | 2023 |
Nacc1 mutation in mice models rare neurodevelopmental disorder with underlying synaptic dysfunction MA Deehan, JM Kothuis, E Sapp, K Chase, Y Ke, C Seeley, M Iuliano, ... Journal of Neuroscience 44 (14), 2024 | | 2024 |
Trappc9 deficiency causes obesity and fatty liver disease by constraining dopamine neurotransmission Y Li, M Usman, E Sapp, Y Ke, Z Wang, A Boudi, M DiFiglia, X Li bioRxiv, 2024.02. 13.580023, 2024 | | 2024 |
Early whole-body mutant huntingtin lowering averts changes in proteins and lipids important for synapse function and white matter maintenance in the LacQ140 mouse model K Shing, E Sapp, A Boudi, S Liu, C Seeley, D Marchionini, M DiFiglia, ... Neurobiology of disease 187, 106313, 2023 | | 2023 |