K
Kate Young
Researcher at University of Manchester
Publications - 7
Citations - 3869
Kate Young is an academic researcher from University of Manchester. The author has contributed to research in topics: Trinucleotide repeat expansion & C9orf72. The author has an hindex of 5, co-authored 5 publications receiving 3383 citations.
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Journal ArticleDOI
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
Alan E. Renton,Elisa Majounie,Adrian James Waite,Javier Simón-Sánchez,Javier Simón-Sánchez,Sara Rollinson,J. Raphael Gibbs,J. Raphael Gibbs,Jennifer C. Schymick,Hannu Laaksovirta,John C. van Swieten,John C. van Swieten,Liisa Myllykangas,Hannu Kalimo,Anders Paetau,Yevgeniya Abramzon,Anne M. Remes,Alice Kaganovich,Sonja W. Scholz,Sonja W. Scholz,Sonja W. Scholz,Jamie Duckworth,Jinhui Ding,Daniel W. Harmer,Dena G. Hernandez,Dena G. Hernandez,Janel O. Johnson,Janel O. Johnson,Kin Y. Mok,Mina Ryten,Danyah Trabzuni,Rita Guerreiro,Richard W. Orrell,James Neal,Alexandra Murray,J. P. Pearson,Iris E. Jansen,David Sondervan,Harro Seelaar,Derek J. Blake,Kate Young,Nicola Halliwell,Janis Bennion Callister,Greg Toulson,Anna Richardson,Alexander Gerhard,Julie S. Snowden,David M. A. Mann,David Neary,Mike A. Nalls,Terhi Peuralinna,Lilja Jansson,Veli-Matti Isoviita,Anna-Lotta Kaivorinne,Maarit Hölttä-Vuori,Elina Ikonen,Raimo Sulkava,Michael Benatar,Joanne Wuu,Adriano Chiò,Gabriella Restagno,Giuseppe Borghero,Mario Sabatelli,David Heckerman,Ekaterina Rogaeva,Lorne Zinman,Jeffrey D. Rothstein,Michael Sendtner,Carsten Drepper,Evan E. Eichler,Can Alkan,Ziedulla Abdullaev,Svetlana Pack,Amalia Dutra,Evgenia Pak,John Hardy,Andrew B. Singleton,Nigel Williams,Peter Heutink,Stuart Pickering-Brown,Huw R. Morris,Huw R. Morris,Huw R. Morris,Pentti J. Tienari,Bryan J. Traynor,Bryan J. Traynor +85 more
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
Journal ArticleDOI
Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease.
Sara Rollinson,Nicola Halliwell,Kate Young,Janis Bennion Callister,Greg Toulson,Linda Gibbons,Yvonne S Davidson,Andrew C Robinson,Alexander Gerhard,Anna Richardson,David Neary,Julie S. Snowden,David M. A. Mann,Stuart Pickering-Brown +13 more
TL;DR: This work genotyped the hexanucleotide repeat region of C9ORF72 in a large cohort of patients with Alzheimer's disease (AD) and concluded that the Hexan nucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.
Journal ArticleDOI
A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD
Sara Rollinson,Janis Bennion Callister,Kate Young,Sarah Ryan,Ronald Druyeh,Jonathan D. Rohrer,Julie S. Snowden,Anna Richardson,Matthew Jones,Jenny Harris,Yvonne S Davidson,Andrew C Robinson,John Ealing,Janel O. Johnson,Bryan J. Traynor,Simon Mead,David M. A. Mann,Stuart Pickering-Brown +17 more
TL;DR: This article identified 2 brothers with an expansion mutation in C9orf72 using Southern blotting that is undetectable using repeat-primed polymerase chain reaction and identified missed expansion carriers in their cohort, and this number has increased by approximately 25%.
Journal ArticleDOI
p62/SQSTM1 analysis in frontotemporal lobar degeneration
Louise Miller,Sara Rollinson,Janis Bennion Callister,Kate Young,Jenny Harris,Alexander Gerhard,David Neary,Anna Richardson,Julie S. Snowden,David M. A. Mann,Stuart Pickering-Brown +10 more
TL;DR: A role of p62/SQSTM1 as a cause of frontotemporal lobar degeneration is confirmed after the entire open reading frame of this gene was sequenced in a large cohort of patients.
Journal ArticleDOI
Identification of biological pathways regulated by PGRN and GRN peptide treatments using transcriptome analysis.
TL;DR: Gene ontology analysis supports the regulation of biological processes such as the spliceosome and proteasome in response to PGRN treatment, as well as the lysosomal pathway constituents such as CHMP1A, further supporting the role of P GRN in lysOSomal function.