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Akademický článek

Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD)

Autor: Wing C. Lee, Yuen K. Tsoi, Chad A. Dickey, Michael W. DeLucia, Dennis W. Dickson, Christopher B. Eckman

Publikováno v: Neurobiology of Disease, Vol 23, Iss 2, Pp 273-280 (2006)

The twitcher mouse is a pathologically and enzymatically authentic model of globoid cell leukodystrophy (GLD, Krabbe disease) that has been widely used for the evaluation of potential therapeutic approaches. This naturally occurring mouse model conta

Externí odkaz: https://doaj.org/article/4421a88923ef4370b643aef1ceee8e36

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

Autor: Wing C. Lee, Dennis W. Dickson, Leonard Petrucelli, Rosa Rademakers, Lillian M. Daughrity, Marka van Blitterswijk, Yong Jie Zhang, Monica Castanedes-Casey, Thomas R. Caulfield, Peter E.A. Ash, Judith Dunmore, Karen Jansen-West, Danielle M. Cosio, Kevin F. Bieniek, Jeannie Chew, Kevin B. Boylan, Tania F. Gendron

Publikováno v: Acta Neuropathologica
Acta neuropathologica

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are devastating neurodegenerative disorders with clinical, genetic, and neuropathological overlap. A hexanucleotide (GGGGCC) repeat expansion in a non-coding region of C9ORF72 is t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58449659536f4a2de90006af11a3bc58
http://europepmc.org/articles/PMC3830741

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Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

Publikováno v: Nature neuroscience

Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4c886437ded21eaa7525c31003118d
https://pubmed.ncbi.nlm.nih.gov/26240037

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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

Autor: Songsong Cao, Amber M.K. Clark, Judith Dunmore, Guy A. Caldwell, Cam Patterson, Christopher B. Eckman, Leonard Petrucelli, Wen Lang Lin, Chad A. Dickey, Wing C. Lee, Mei Yue, Dennis W. Dickson, Cynthia Zehr, Gemma West, Mike Hutton, Kim A. Caldwell

Publikováno v: The Journal of Neuroscience. 26:6985-6996

Accumulation of the microtubule-associated protein tau into neurofibrillary lesions is a pathological consequence of several neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. Hereditary mutations in theMAPTgene were s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb312c980d78d26701f64f48fedce33
https://doi.org/10.1523/jneurosci.0746-06.2006

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Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency

Autor: Peter O. Bauer, Yong Jie Zhang, Hiroki Sasaguri, Jeannie Chew, Karen Jansen-West, Mercedes Prudencio, Sandra Almeida, Tania F. Gendron, Thomas R. Caulfield, Leonard Petrucelli, William M. Tay, Ian R. A. Mackenzie, Fen-Biao Gao, Wing C. Lee, Caroline Stetler, Ni Cole A. Finch, Rosa Rademakers

Publikováno v: Human molecular genetics
Human Molecular Genetics

Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal lobar degeneration (FTLD-TDP). Recent discoveries demonstrating sortilin (SORT1) is a neuronal receptor for PGRN endocytosis and a determinant of plasma PGRN l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa35d7d2f1edf35d8622e7ad2d75882

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Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy

Autor: Melody Stallings-Mann, Frederick J. Troendle, Andrew Courtenay, Michael W. DeLucia, Wing C. Lee, Chad A. Dickey, Dennis W. Dickson, Christopher B. Eckman

Publikováno v: The FASEB Journal. 19:1549-1551

Globoid cell leukodystrophy (GLD) or Krabbe disease is a devastating, degenerative neurological disorder caused by mutations in the galactosylceramidase (GALC) gene that severely affect enzyme activity. Currently, treatment options for this disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0eb123549ada5d53bad5a469befda1e
https://doi.org/10.1096/fj.05-3826fje

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The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

Autor: Tania F. Gendron, Hiroki Sasaguri, Wing C. Lee, Shuyi Cai, Thomas R. Caulfield, Caroline Stetler, Ena C. Whitelaw, Ya Fei Xu, Yong Jie Zhang, Jaime Hubbard, Leonard Petrucelli

Publikováno v: Human Molecular Genetics

TAR DNA-binding protein-43 (TDP-43) is the principal component of ubiquitinated inclusions in amyotrophic lateral sclerosis (ALS) and the most common pathological subtype of frontotemporal dementia—frontotemporal lobar degeneration with TDP-43-posi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ede2bee0e05175983933e5848f90d6cf
https://pubmed.ncbi.nlm.nih.gov/23575225

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Progranulin regulates neuronal outgrowth independent of Sortilin

Autor: Christopher D. Link, Jennifer Gass, Nicole A. Finch, Jada Lewis, Wing C. Lee, Anders Nykjaer, Leonard Petrucelli, Karen Jansen-West, Rosa Rademakers, Casey Cook, Caroline Stetler

Publikováno v: Molecular Neurodegeneration, Vol 7, Iss 1, p 33 (2012)
MOLECULAR NEURODEGENERATION
Gass, J, Lee, W C, Cook, C, Finch, N, Stetler, C, Jansen-West, K, Lewis, J, Link, C D, Rademakers, R, Nykjær, A & Petrucelli, L 2012, ' Progranulin regulates neuronal outgrowth independent of Sortilin ', Molecular Neurodegeneration, vol. 7, pp. 33 . https://doi.org/10.1186/1750-1326-7-33
Molecular Neurodegeneration

Background Progranulin (PGRN), a widely secreted growth factor, is involved in multiple biological functions, and mutations located within the PGRN gene (GRN) are a major cause of frontotemporal lobar degeneration with TDP-43-positive inclusions (FLT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5685c8e86b9c6e43ffdbe0ac5c077f9
http://www.molecularneurodegeneration.com/content/7/1/33

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Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

Autor: Elizabeth A. Eckman, Aimee R. Herdt, Christopher B. Eckman, Dongcheul Kang, Wing C. Lee, Ena Causevic

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience. 30(16)

Globoid cell leukodystrophy (GLD) (Krabbe disease) is an autosomal recessive, degenerative, lysosomal storage disease caused by a severe loss of galactocerebrosidase (GALC) enzymatic activity. Of the >70 disease-causing mutations in theGALCgene, most

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb2a43757cd3c7c39e85d55fcfa6e78f
https://pubmed.ncbi.nlm.nih.gov/20410102

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Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy

Autor: Yuen K. Tsoi, Frederick J. Troendle, Christopher B. Eckman, Zeshan Ahmed, Chad A. Dicky, Wing C. Lee, Dennis W. Dickson, Michael W. DeLucia

Publikováno v: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 21(10)

Globoid cell leukodystrophy (GLD), also known as Krabbe disease, is a devastating, degenerative neurological disorder. It is inherited as an autosomal recessive trait caused by loss-of-function mutations in the galactocerebrosidase (GALC) gene. Previ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c53176378b7694f8fb64368a36ca2d
https://pubmed.ncbi.nlm.nih.gov/17403939

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