Search Results - "Mann, Jacob R."

RNA modulates physiological and neuropathological protein phase transitions by Mann, Jacob R., Donnelly, Christopher J.

“…Aggregation of RNA-binding proteins (RBPs) is a pathological hallmark of neurodegenerative disorders like amyotrophic lateral sclerosis (ALS) and…”
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NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility by Gleixner, Amanda M., Verdone, Brandie Morris, Otte, Charlton G., Anderson, Eric N., Ramesh, Nandini, Shapiro, Olivia R., Gale, Jenna R., Mauna, Jocelyn C., Mann, Jacob R., Copley, Katie E., Daley, Elizabeth L., Ortega, Juan A., Cicardi, Maria Elena, Kiskinis, Evangelos, Kofler, Julia, Pandey, Udai B., Trotti, Davide, Donnelly, Christopher J.

“…A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions…”
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Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo by Otte, Charlton G., Fortuna, Tyler R., Mann, Jacob R., Gleixner, Amanda M., Ramesh, Nandini, Pyles, Noah J., Pandey, Udai B., Donnelly, Christopher J.

“…TDP-43 is a predominantly nuclear DNA/RNA binding protein that is often mislocalized into insoluble cytoplasmic inclusions in post-mortem patient tissue in a…”
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RNA dependent suppression of C9orf72 ALS/FTD associated neurodegeneration by Matrin-3 by Ramesh, Nandini, Daley, Elizabeth L, Gleixner, Amanda M, Mann, Jacob R, Kour, Sukhleen, Mawrie, Darilang, Anderson, Eric N, Kofler, Julia, Donnelly, Christopher J, Kiskinis, Evangelos, Pandey, Udai Bhan

“…The most common genetic cause of amyotrophic lateral sclerosis (ALS) is a GGGGCC (G4C2) hexanucleotide repeat expansions in first intron of the C9orf72 gene…”
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RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43 by Mann, Jacob R., Gleixner, Amanda M., Mauna, Jocelyn C., Gomes, Edward, DeChellis-Marks, Michael R., Needham, Patrick G., Copley, Katie E., Hurtle, Bryan, Portz, Bede, Pyles, Noah J., Guo, Lin, Calder, Christopher B., Wills, Zachary P., Pandey, Udai B., Kofler, Julia K., Brodsky, Jeffrey L., Thathiah, Amantha, Shorter, James, Donnelly, Christopher J.

“…TDP-43 proteinopathy is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia where cytoplasmic TDP-43 inclusions are observed…”
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Hypoxic-Preconditioned Bone Marrow Stem Cell Medium Significantly Improves Outcome After Retinal Ischemia in Rats by Roth, Steven, Dreixler, John C, Mathew, Biji, Balyasnikova, Irina, Mann, Jacob R, Boddapati, Venkat, Xue, Lai, Lesniak, Maciej S

“…We have previously demonstrated the protective effect of bone marrow stem cell (BMSC)-conditioned medium in retinal ischemic injury. We hypothesized here that…”
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Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import by Mann, Jacob R, McKenna, Elizabeth D, Mawrie, Darilang, Papakis, Vasileios, Alessandrini, Francesco, Anderson, Eric N, Mayers, Ryan, Ball, Hannah E, Kaspi, Evan, Lubinski, Katherine, Baron, Desiree M, Tellez, Liana, Landers, John E, Pandey, Udai B, Kiskinis, Evangelos

“…Loss-of-function variants in NIMA-related kinase 1 (NEK1) constitute a major genetic cause of amyotrophic lateral sclerosis (ALS), accounting for 2 to 3% of…”
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