Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Robert S. Lahue"'
Autor:
Robert S. Lahue
Publikováno v:
Cell Reports, Vol 36, Iss 11, Pp 109736- (2021)
Summary: The DNA repair proteins FAN1 and MLH1 have opposing effects on triplet repeat expansions. New studies by Goold et al. (2021) and Porro et al. (2021) pinpoint interactions between FAN1 and MLH1 that cross-regulate each other’s activities.
Externí odkaz:
https://doaj.org/article/29ef787144a848b28ea2d1af3e27cafa
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Abstract Huntington’s disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone de
Externí odkaz:
https://doaj.org/article/83fb75d6d54c4e1bb96e9a37f243acff
Autor:
Aisling Frizzell, Jennifer H.G. Nguyen, Mark I.R. Petalcorin, Katherine D. Turner, Simon J. Boulton, Catherine H. Freudenreich, Robert S. Lahue
Publikováno v:
Cell Reports, Vol 6, Iss 5, Pp 827-835 (2014)
Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutation for 1
Externí odkaz:
https://doaj.org/article/99329ac20429415da2c273beafbde239
Autor:
Aisling Frizzell, Jennifer H.G. Nguyen, Mark I.R. Petalcorin, Katherine D. Turner, Simon J. Boulton, Catherine H. Freudenreich, Robert S. Lahue
Publikováno v:
Cell Reports, Vol 16, Iss 7, p 2047 (2016)
Externí odkaz:
https://doaj.org/article/9f235005ed9945da985866df7c3de921
Autor:
Robert S. Lahue
Publikováno v:
Neuronal Signaling
Huntington’s disease (HD) is a fatal, inherited neurodegenerative disease that causes neuronal death, particularly in medium spiny neurons. HD leads to serious and progressive motor, cognitive and psychiatric symptoms. Its genetic basis is an expan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72cacef681563784376b1a013bd4f511
http://europepmc.org/articles/PMC7672267
http://europepmc.org/articles/PMC7672267
Autor:
Robert S. Lahue, Gregory M. Williams
Publikováno v:
Methods in Molecular Biology ISBN: 9781493997831
Determining the molecular mechanisms that contribute to trinucleotide repeat (TNR) expansions is essential to understanding the origin of genetically inherited diseases, such as Huntington's disease, and to inform efforts in developing therapeutic tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f70632a5d6681388212daf330eff468
https://doi.org/10.1007/978-1-4939-9784-8_10
https://doi.org/10.1007/978-1-4939-9784-8_10
Publikováno v:
Nucleic Acids Research
CTG circle CAG repeat expansions cause at least twelve inherited neurological diseases. Expansions require the presence, not the absence, of the mismatch repair protein MutS beta (Msh2-Msh3 heterodimer). To evaluate properties of MutS beta that drive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac00076f2c584a0c975adf2ebb7e185
http://hdl.handle.net/10379/12240
http://hdl.handle.net/10379/12240
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-15 (2017)
Huntington’s disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22d27e3b0080db2c214d3bf4e0dfaa2a
http://hdl.handle.net/2445/122053
http://hdl.handle.net/2445/122053
Autor:
Claire Concannon, Robert S. Lahue
Publikováno v:
Nucleic Acids Research
Trinucleotide repeat (TNR) expansion is the causative mutation for at least 17 inherited neurological diseases. An important question in the field is which proteins drive the expansion process. This study reports that the multi-functional protein Sem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e95b2517801992399cab734149b34b53
http://europepmc.org/articles/PMC3695522
http://europepmc.org/articles/PMC3695522
Autor:
Simon J. Boulton, Jennifer Nguyen, Aisling Frizzell, Katherine D. Turner, Mark I.R. Petalcorin, Robert S. Lahue, Catherine H. Freudenreich
Publikováno v:
Cell Reports, Vol 16, Iss 7, p 2047 (2016)
Cell Reports, Vol 6, Iss 5, Pp 827-835 (2014)
Cell reports
Cell Reports, Vol 6, Iss 5, Pp 827-835 (2014)
Cell reports
Summary Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfd0e5850d835c25acb295e9b044f3e9
http://www.sciencedirect.com/science/article/pii/S2211124716310166
http://www.sciencedirect.com/science/article/pii/S2211124716310166