Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Chiara, Masnovo"'
Autor:
Chiara Masnovo, Zohar Paleiov, Daniel Dovrat, Laurel K. Baxter, Sofia Movafaghi, Amir Aharoni, Sergei M. Mirkin
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Trinucleotide repeats, including Friedreich’s ataxia (GAA)n repeats, become pathogenic upon expansions during DNA replication and repair. Here, we show that deficiency of the essential replisome component Mcm10 dramatically elevates (GAA)n
Externí odkaz:
https://doaj.org/article/bf4edbe7e85347b4867d41e20eff4826
Publikováno v:
DNA Repair (Amst)
Trinucleotide repeat instability is a driver of human disease. Large expansions of (GAA)(n) repeats in the first intron of the FXN gene are the cause Friedreich’s ataxia (FRDA), a progressive degenerative disorder which cannot yet be prevented or t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c21297e4542ccb5fe49d344b03046d8
https://europepmc.org/articles/PMC9675320/
https://europepmc.org/articles/PMC9675320/
Autor:
Theodor, Marsoner, Poornima, Yedavalli, Chiara, Masnovo, Sarah, Fink, Katrin, Schmitzer, Christopher S, Campbell
Publikováno v:
Molecular Biology of the Cell. 33
Chromosome biorientation is promoted by the four-member chromosomal passenger complex (CPC) through phosphorylation of incorrect kinetochore-microtubule attachments. During chromosome alignment, the CPC localizes to the inner centromere, the inner ki
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bad23ec278b625a6b66b6d91dea01fb
https://doi.org/10.1091/mbc.e21-11-0590
https://doi.org/10.1091/mbc.e21-11-0590
Autor:
Erica J Polleys, Ekaterina Spivakovsky-Gonzalez, Jorge Cebrian, Catherine H. Freudenreich, Chiara Masnovo, Sergei M. Mirkin, Adrian M Molina-Vargas
Publikováno v:
Genetics
Large-scale expansion of (GAA)n repeats in the first intron of the FXN gene is responsible for the severe neurodegenerative disease, Friedreich’s ataxia in humans. We have previously conducted an unbiased genetic screen for GAA repeat instability i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ce32aedca6d55c2bd3e08dea6a269e
https://doi.org/10.1093/genetics/iyab125
https://doi.org/10.1093/genetics/iyab125
Autor:
Poornima Yedavalli, Theodor Marsoner, Katrin Schmitzer, Chiara Masnovo, Christopher J. Campbell
Chromosome biorientation is established by the four-member chromosomal passenger complex (CPC) through phosphorylation of incorrect kinetochore-microtubule attachments. During chromosome alignment, the CPC localizes to the inner centromere, the inner
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7da43349541efc1563015409e2717ef
https://doi.org/10.1101/2020.09.10.288878
https://doi.org/10.1101/2020.09.10.288878