Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Anne Early"'
Autor:
Petya Bogdanova-Mihaylova, Helena Maria Plapp, Hongying Chen, Anne Early, Lorraine Cassidy, Richard A. Walsh, Sinéad M. Murphy
Publikováno v:
Tomography, Vol 7, Iss 4, Pp 915-931 (2021)
Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with opti
Externí odkaz:
https://doaj.org/article/d778574661384a19b5b68c26f4f61f1d
Autor:
Panchali Goswami, Ferdos Abid Ali, Max E. Douglas, Julia Locke, Andrew Purkiss, Agnieszka Janska, Patrik Eickhoff, Anne Early, Andrea Nans, Alan M. C. Cheung, John F. X. Diffley, Alessandro Costa
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Eukaryotic origin firing depends on assembly of the Cdc45-MCM-GINS (CMG) helicase, which requires the leading-strand polymerase Pol ɛ. Here the authors present a structural analysis of a CMG Pol ɛ on a DNA fork, providing insight on the steps leadi
Externí odkaz:
https://doaj.org/article/9aa43b820ec5447a9b984fff5621c4e6
Autor:
Helena Maria Plapp, John C. McHugh, Anne Early, Sharon Moran, Sinéad M. Murphy, Timothy Lynch, Michael D Alexander, Richard A. Walsh, Ciara Gorman, Lorraine Cassidy, Hongying Chen, Petya Bogdanova-Mihaylova
Publikováno v:
Journal of Neurology. 268:3897-3907
Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype. Comprehensive phenotyping was performed with documentation of clinical, neurophysiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::219dcd1cdf9c59cc5f03b0dd0c14bb25
https://doi.org/10.1007/s00415-021-10507-8
https://doi.org/10.1007/s00415-021-10507-8
Autor:
Petya, Bogdanova-Mihaylova, Hongying, Chen, Helena Maria, Plapp, Ciara, Gorman, Michael D, Alexander, John C, McHugh, Sharon, Moran, Anne, Early, Lorraine, Cassidy, Timothy, Lynch, Sinéad M, Murphy, Richard A, Walsh
Publikováno v:
Journal of neurology. 268(10)
Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype.Comprehensive phenotyping was performed with documentation of clinical, neurophysiologi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95cdc5cf7a60c28874a5eeb445ef4d5f
https://pubmed.ncbi.nlm.nih.gov/34014344
https://pubmed.ncbi.nlm.nih.gov/34014344
Publikováno v:
Molecular Cell
Summary The eukaryotic replisome is a molecular machine that coordinates the Cdc45-MCM-GINS (CMG) replicative DNA helicase with DNA polymerases α, δ, and ε and other proteins to copy the leading- and lagging-strand templates at rates between 1 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317c90c73bd3c6de1d0b28d6e5886ba5
https://doi.org/10.1016/j.molcel.2016.11.017
https://doi.org/10.1016/j.molcel.2016.11.017
Autor:
Lorraine Cassidy, Ciara Gorman, Petya Bogdanova-Mihaylova, Sharon Moran, Sinéad M. Murphy, Helena Maria Plapp, Hongying Chen, Timothy Lynch, Richard A. Walsh, Michael D Alexander, John C. McHugh, Anne Early
Publikováno v:
Journal of Neurology. 268:3908-3908
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff0a676c8d1911756f66dc2e0d845476
https://doi.org/10.1007/s00415-021-10593-8
https://doi.org/10.1007/s00415-021-10593-8
Autor:
Raymond P. Murphy, Sinéad M. Murphy, Richard A. Walsh, Lorraine Cassidy, Neil Austin, Anne Early, Petya Bogdanova-Mihaylova, Michael D Alexander
Publikováno v:
Movement Disorders Clinical Practice. 4:258-262
The autosomal recessive cerebellar ataxias are a heterogeneous group of neurodegenerative disorders. Mutations in the anoctamin 10 gene (ANO10) recently have been identified as a cause of autosomal recessive spinocerebellar ataxia type 10. Comprehens
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a45bf27688700b45c44bbef270b6d629
https://doi.org/10.1002/mdc3.12396
https://doi.org/10.1002/mdc3.12396
Publikováno v:
Nature
Eukaryotic cells initiate DNA replication from multiple origins, which must be tightly regulated to promote precise genome duplication in every cell cycle. To accomplish this, initiation is partitioned into two temporally discrete steps: a double hex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c89cd5e58dd690bde2f2deeb2c9f1704
http://europepmc.org/articles/PMC4874468
http://europepmc.org/articles/PMC4874468
Publikováno v:
Molecular Cell
Summary The integrity of eukaryotic genomes requires rapid and regulated chromatin replication. How this is accomplished is still poorly understood. Using purified yeast replication proteins and fully chromatinized templates, we have reconstituted th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310f2353d734965409ab19de0c9a8ede
Autor:
Jeffrey G. Williams, Anne Early, Richard A. Firtel, Eugene Kim, Tsuyoshi Araki, Marianne Gamper, Takefumi Kawata, Masashi Fukuzawa, Tomoaki Abe
Publikováno v:
The EMBO Journal. 17:4018-4028
T.Araki and M.Gamper contributed equally to this work Dd-STAT, the protein that in part controls Dictyostelium stalk cell differentiation, is a structural and functional homolog of metazoan signal transducers and activators of transcription (STATs).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95fd1417002e4df615173aa863a84785
https://doi.org/10.1093/emboj/17.14.4018
https://doi.org/10.1093/emboj/17.14.4018