Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Philip, McGoldrick"'
Autor:
Chiara Lattuada, Serena Santangelo, Silvia Peverelli, Philip McGoldrick, Ekaterina Rogaeva, Lorne Zinman, Georg Haase, Vincent Géli, Vincenzo Silani, Janice Robertson, Antonia Ratti, Patrizia Bossolasco
Publikováno v:
Stem Cell Research, Vol 73, Iss , Pp 103245- (2023)
Externí odkaz:
https://doaj.org/article/82c8cbde33364d2b8f4c04f5b8700c22
Autor:
Philip McGoldrick, Janice Robertson
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two adult-onset neurodegenerative diseases that are part of a common disease spectrum due to clinical, genetic, and pathological overlap. A prominent genetic factor contributin
Externí odkaz:
https://doaj.org/article/abcbbea0738149ed97e5d0e6e3fabeab
Publikováno v:
Cell Reports, Vol 42, Iss 3, Pp 112134- (2023)
Summary: A hexanucleotide (GGGGCC)n repeat expansion in C9orf72 causes amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins, and/or loss of C9orf72 pr
Externí odkaz:
https://doaj.org/article/272697a70a5e473098b0781417cf2bdc
Autor:
Chiara Lattuada, Serena Santangelo, Silvia Peverelli, Philip McGoldrick, Ekaterina Rogaeva, Lorne Zinman, Georg Haase, Vincent Géli, Vincenzo Silani, Janice Robertson, Antonia Ratti, Patrizia Bossolasco
Publikováno v:
Stem Cell Research, Vol 66, Iss , Pp 102998- (2023)
The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower
Externí odkaz:
https://doaj.org/article/bcc29c6b77764dd683e3306ceb13c7d8
Autor:
Chiara Lattuada, Serena Santangelo, Silvia Peverelli, Philip McGoldrick, Ekaterina Rogaeva, Lorne Zinman, Georg Haase, Vincent Géli, Vincenzo Silani, Janice Robertson, Antonia Ratti, Patrizia Bossolasco
Publikováno v:
Stem cell research. 66
The most common genetic cause of Amyotrophic Lateral Sclerosis (ALS) is the expansion of a G4C2 hexanucleotide repeat in the C9orf72 gene. The size of the repeat expansion is highly variable and a cut-off of 30 repeats has been suggested as the lower
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39b8f4beb61dc33711356a148e58d2ba
https://pubmed.ncbi.nlm.nih.gov/36528014
https://pubmed.ncbi.nlm.nih.gov/36528014
SummaryRepeat expansions in C9orf72 cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) eliciting toxic effects through generation of RNA foci, dipeptide repeat proteins and/or loss of C9orf72 protein. Defects in nucleocytopla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1050bdceefb5a8693c0c0a237c9dad6e
https://doi.org/10.1101/2021.10.20.465148
https://doi.org/10.1101/2021.10.20.465148
Autor:
Thomas Ricketts, Philip McGoldrick, Pietro Fratta, Hugo M de Oliveira, Rosie Kent, Vinaya Phatak, Sebastian Brandner, Gonzalo Blanco, Linda Greensmith, Abraham Acevedo-Arozena, Elizabeth M C Fisher
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e85962 (2014)
Mutations in TARDBP, encoding Tar DNA binding protein-43 (TDP43), cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Attempts to model TDP43 dysfunction in mice have used knockouts or transgenic overexpressors, which have re
Externí odkaz:
https://doaj.org/article/1d5899969a824195b2c47053b2f154fc
Autor:
Xavier Roucou, Philip McGoldrick, Janice Robertson, Jean-François Jacques, Giulia E. Tyzack, Steve Jean, Rickie Patani, Sonya Nassari, Marie A. Brunet, Lorne Zinman
Publikováno v:
EMBO Reports
Novel functional coding sequences (altORFs) are camouflaged within annotated ones (CDS) in a different reading frame. We show here that an altORF is nested in the FUS CDS, encoding a conserved 170 amino acid protein, altFUS. AltFUS is endogenously ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84bff63c12e74957a2c7dbfe952c956
https://doi.org/10.15252/embr.202050640
https://doi.org/10.15252/embr.202050640
Autor:
Janice Robertson, Ekaterina Rogaeva, Andrew Gao, Paul M. McKeever, Philip McGoldrick, Samira Alminawi, Lorne Zinman, Ming Zhang, Julia Keith, Emily Swinkin
Publikováno v:
Neurology: Genetics
ObjectiveTo present the postmortem neuropathologic report of a patient with a CHCHD10 mutation exhibiting an amyotrophic lateral sclerosis (ALS) clinical phenotype.MethodsA 54-year-old man without significant medical history or family history present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1c229fc3658f912633142d99dd7317d
http://europepmc.org/articles/PMC6975173
http://europepmc.org/articles/PMC6975173
Autor:
Michael J. Devine, Alice Kaganovich, Mina Ryten, Adamantios Mamais, Daniah Trabzuni, Claudia Manzoni, Philip McGoldrick, Diane Chan, Allissa Dillman, Julia Zerle, Susannah Horan, Jan-Willem Taanman, John Hardy, Jose-Felix Marti-Masso, Daniel Healy, Anthony H. Schapira, Benjamin Wolozin, Rina Bandopadhyay, Mark R. Cookson, Marcel P. van der Brug, Patrick A. Lewis
Publikováno v:
PLoS ONE, Vol 7, Iss 1 (2012)
Externí odkaz:
https://doaj.org/article/46de591ce9b249fda4d5222348b06db5