Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Katie E. Copley"'
Autor:
Amanda M. Gleixner, Brandie Morris Verdone, Charlton G. Otte, Eric N. Anderson, Nandini Ramesh, Olivia R. Shapiro, Jenna R. Gale, Jocelyn C. Mauna, Jacob R. Mann, Katie E. Copley, Elizabeth L. Daley, Juan A. Ortega, Maria Elena Cicardi, Evangelos Kiskinis, Julia Kofler, Udai B. Pandey, Davide Trotti, Christopher J. Donnelly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
ALS and FTLD are both characterized by insoluble cytoplasmic depositions of TDP43. Here the authors show that the nucleopore protein NUP62 is mislocalized in C9orf72 and sporadic ALS/FTLD and propose that it interacts with TDP-43 to promote its insol
Externí odkaz:
https://doaj.org/article/04c38fed278645e2a4a1f52a4ea229f4
Autor:
Katie E. Copley, James Shorter
Publikováno v:
Trends in Genetics. 39:381-400
Autor:
Pedro Ervilha Pereira, Nika Schuermans, Antoon Meylemans, Pontus LeBlanc, Lauren Versluys, Katie E. Copley, Jack D. Rubien, Christopher Altheimer, Myra Peetermans, Elke Debackere, Olivier Vanakker, Sandra Janssens, Jonathan Baets, Kristof Verhoeven, Martin Lammens, Sofie Symoens, Boel De Paepe, Sami J. Barmada, James Shorter, Jan L. De Bleecker, Elke Bogaert, Bart Dermaut
Publikováno v:
Acta neuropathologica
ACTA NEUROPATHOLOGICA
ACTA NEUROPATHOLOGICA
Neuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants in TARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-
Publikováno v:
The FASEB Journal. 36
Autor:
Hana M. Odeh, Martina Hallegger, Aram G. Amalietti, Bo Lim Lee, Bede Portz, Nicholas M. Luscombe, Klara Kuret, Jack D. Rubien, James Shorter, Frédérique Rau, Nicolas L. Fawzi, Rickie Patani, Ina Huppertz, Jernej Ule, Katie E. Copley, Anob M. Chakrabarti, Flora C.Y. Lee
Publikováno v:
Cell, vol. 184, no. 18, pp. 4680-4696,e1-e22, 2021.
Cell
Cell
Summary Mutations causing amyotrophic lateral sclerosis (ALS) often affect the condensation properties of RNA-binding proteins (RBPs). However, the role of RBP condensation in the specificity and function of protein-RNA complexes remains unclear. We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ed2633fd10b3a00dd40befabec71e0
https://dirros.openscience.si/Dokument.php?id=18781&dn=
https://dirros.openscience.si/Dokument.php?id=18781&dn=
Autor:
Hui Shen, Amber Yanas, Michael C. Owens, Celia Zhang, Clark Fritsch, Charlotte M. Fare, Katie E. Copley, James Shorter, Yale E. Goldman, Kathy Fange Liu
Publikováno v:
Molecular cell. 82(14)
Sex differences are pervasive in human health and disease. One major key to sex-biased differences lies in the sex chromosomes. Although the functions of the X chromosome proteins are well appreciated, how they compare with their Y chromosome homolog
Autor:
Brandie Morris Verdone, Jacob R. Mann, Nandini Ramesh, Charlton Otte, Amanda M. Gleixner, Christopher J. Donnelly, Udai Bhan Pandey, Juan A. Ortega, Julia Kofler, Davide Trotti, Evangelos Kiskinis, Maria Elena Cicardi, Elizabeth L. Daley, Jenna Gale, Katie E. Copley, Jocelyn C. Mauna
Amyotrophic lateral sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD) share clinical, neuropathological, and genetic features. This includes common genetic disease-causing mutations such as the expanded G4C2 repeat in the C9orf72 gene (C9-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac407f7f82855b5fa923fc2e50fe1450
https://doi.org/10.21203/rs.3.rs-144654/v1
https://doi.org/10.21203/rs.3.rs-144654/v1
Autor:
Amanda M. Gleixner, Brandie Morris Verdone, Charlton G. Otte, Eric N. Anderson, Nandini Ramesh, Olivia R. Shapiro, Jenna R. Gale, Jocelyn C. Mauna, Jacob R. Mann, Katie E. Copley, Elizabeth L. Daley, Juan A. Ortega, Maria Elena Cicardi, Evangelos Kiskinis, Julia Kofler, Udai B. Pandey, Davide Trotti, Christopher J. Donnelly
Publikováno v:
Nature communications. 13(1)
A G4C2 hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of ALS and FTLD (C9-ALS/FTLD) with cytoplasmic TDP-43 inclusions observed in regions of neurodegeneration. The accumulation of repetitive RNAs and dipeptide r
Autor:
Patrick G. Needham, Jacob R. Mann, Amantha Thathiah, Michael R. DeChellis-Marks, Amanda M. Gleixner, Bede Portz, Udai Bhan Pandey, Zachary P. Wills, Jocelyn C. Mauna, Lin Guo, Katie E. Copley, Bryan Hurtle, Julia Kofler, Jeffrey L. Brodsky, Christopher B. Calder, Noah J. Pyles, Christopher J. Donnelly, James Shorter, Edward Gomes
Publikováno v:
Neuron. 102:321-338.e8
TDP-43 proteinopathy is a pathological hallmark of amyotrophic lateral sclerosis and frontotemporal dementia where cytoplasmic TDP-43 inclusions are observed within degenerating regions of patient postmortem tissue. The mechanism by which TDP-43 aggr