Search Results - "Lee, Wing C."

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS by Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard

“…Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological…”
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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS by Prudencio, Mercedes, Belzil, Veronique V, Batra, Ranjan, Ross, Christian A, Gendron, Tania F, Pregent, Luc J, Murray, Melissa E, Overstreet, Karen K, Piazza-Johnston, Amelia E, Desaro, Pamela, Bieniek, Kevin F, DeTure, Michael, Lee, Wing C, Biendarra, Sherri M, Davis, Mary D, Baker, Matthew C, Perkerson, Ralph B, van Blitterswijk, Marka, Stetler, Caroline T, Rademakers, Rosa, Link, Christopher D, Dickson, Dennis W, Boylan, Kevin B, Li, Hu, Petrucelli, Leonard

“…Evidence suggests that aberrant RNA processing contributes to amyotrophic lateral sclerosis (ALS). Using RNA sequencing, Prudencio et al . assessed the extent…”
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Progranulin regulates neuronal outgrowth independent of sortilin by Gass, Jennifer, Lee, Wing C, Cook, Casey, Finch, Nicole, Stetler, Caroline, Jansen-West, Karen, Lewis, Jada, Link, Christopher D, Rademakers, Rosa, Nykjær, Anders, Petrucelli, Leonard

“…Progranulin (PGRN), a widely secreted growth factor, is involved in multiple biological functions, and mutations located within the PGRN gene (GRN) are a major…”
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Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency by Lee, Wing C, Almeida, Sandra, Prudencio, Mercedes, Caulfield, Thomas R, Zhang, Yong-Jie, Tay, William M, Bauer, Peter O, Chew, Jeannie, Sasaguri, Hiroki, Jansen-West, Karen R, Gendron, Tania F, Stetler, Caroline T, Finch, NiCole, Mackenzie, Ian R, Rademakers, Rosa, Gao, Fen-Biao, Petrucelli, Leonard

“…Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP). Recent discoveries demonstrating…”
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Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor by Prudencio, Mercedes, Jansen-West, Karen R., Lee, Wing C., Gendron, Tania F., Zhang, Yong-Jie, Xu, Ya-Fei, Gass, Jennifer, Stuani, Cristiana, Stetler, Caroline, Rademakers, Rosa, Dickson, Dennis W., Buratti, Emanuele, Petrucelli, Leonard

“…Sortilin 1 regulates the levels of brain progranulin (PGRN), a neurotrophic growth factor that, when deficient, is linked to cases of frontotemporal lobar…”
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Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy by Lee, Wing C, Tsoi, Yuen K, Troendle, Frederick J, DeLucia, Michael W, Ahmed, Zeshan, Dicky, Chad A, Dickson, Dennis W, Eckman, Christopher B

“…Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurological disorder. It is inherited as an autosomal…”
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Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy by Lee, Wing C, Courtenay, Andrew, Troendle, Frederick J, Stallings-Mann, Melody L, Dickey, Chad A, DeLucia, Michael W, Dickson, Dennis W, Eckman, Christopher B

“…ABSTRACTGloboid cell leukodystrophy (GLD) or Krabbe disease is a devastating, degenerative neurological disorder caused by mutations in the…”
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Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD) by Lee, Wing C., Tsoi, Yuen K., Dickey, Chad A., DeLucia, Michael W., Dickson, Dennis W., Eckman, Christopher B.

“…The twitcher mouse is a pathologically and enzymatically authentic model of globoid cell leukodystrophy (GLD, Krabbe disease) that has been widely used for the…”
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Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones by Lee, Wing C, Kang, Dongcheul, Causevic, Ena, Herdt, Aimee R, Eckman, Elizabeth A, Eckman, Christopher B

“…Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative, lysosomal storage disease caused by a severe loss of…”
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Pharmacologic reductions of total tau levels; implications for the role of microtubule dynamics in regulating tau expression by Dickey, Chad A, Ash, Peter, Klosak, Natalia, Lee, Wing C, Petrucelli, Leonard, Hutton, Michael, Eckman, Christopher B

“…The microtubule-associated protein tau (MAPT) is a pathological component of several neurodegenerative diseases and clinical dementias. Here, we have…”
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Deletion of the Ubiquitin Ligase CHIP Leads to the Accumulation, But Not the Aggregation, of Both Endogenous Phospho- and Caspase-3-Cleaved Tau Species by Dickey, Chad A, Yue, Mei, Lin, Wen-Lang, Dickson, Dennis W, Dunmore, Judith H, Lee, Wing C, Zehr, Cynthia, West, Gemma, Cao, Songsong, Clark, Amber M. K, Caldwell, Guy A, Caldwell, Kim A, Eckman, Christopher, Patterson, Cam, Hutton, Michael, Petrucelli, Leonard

“…Accumulation of the microtubule-associated protein tau into neurofibrillary lesions is a pathological consequence of several neurodegenerative diseases,…”
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HSP induction mediates selective clearance of tau phosphorylated at proline-directed Ser/Thr sites but not KXGS (MARK) sites by Dickey, Chad A, Dunmore, Judith, Lu, Bingwei, Wang, Ji-Wu, Lee, Wing C, Kamal, Adeela, Burrows, Francis, Eckman, Christopher, Hutton, Michael, Petrucelli, Leonard

“…ABSTRACT Neurofibrillary tangles (NFTs) are a characteristic neuropathological feature of Alzheimer's disease (AD), and molecular chaperones appear to be…”
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