Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Jacqueline C. Mitchell"'
Autor:
Andrea Markovinovic, Sandra M. Martín-Guerrero, Gábor M. Mórotz, Shaakir Salam, Patricia Gomez-Suaga, Sebastien Paillusson, Jenny Greig, Younbok Lee, Jacqueline C. Mitchell, Wendy Noble, Christopher C.J. Miller
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-17 (2024)
Abstract Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are clinically linked major neurodegenerative diseases. Notably, TAR DNA-binding protein-43 (TDP43) accumulations are hallmark pathologies of FTD/ALS and mutations in the
Externí odkaz:
https://doaj.org/article/959726ed7de941829423f9bf27ab624c
Autor:
Shaakir Salam, Sara Tacconelli, Bradley N. Smith, Jacqueline C. Mitchell, Elizabeth Glennon, Nikolas Nikolaou, Corinne Houart, Caroline Vance
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
Abstract Aberrantly expressed fused in sarcoma (FUS) is a hallmark of FUS-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Wildtype FUS localises to synapses and interacts with mitochondrial proteins while mutations have
Externí odkaz:
https://doaj.org/article/0579a38085794fbda811e7a5e4c1c5ce
Autor:
Han-Jou Chen, Jacqueline C. Mitchell
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 6004 (2021)
TDP-43 is an RNA-binding protein that has been robustly linked to the pathogenesis of a number of neurodegenerative disorders, including amyotrophic lateral sclerosis and frontotemporal dementia. While mutations in the TARDBP gene that codes for the
Externí odkaz:
https://doaj.org/article/bf639c9825294687bb48ca52fa6d4bfe
Autor:
Nirmal Kumar Sampathkumar, Venkat Krishnan Sundaram, Prakroothi S Danthi, Rasha Barakat, Shiden Solomon, Mrityunjoy Mondal, Ivo Carre, Tatiana El Jalkh, Aïda Padilla-Ferrer, Julien Grenier, Charbel Massaad, Jacqueline C Mitchell
Publikováno v:
PLoS Computational Biology, Vol 18, Iss 2, p e1009868 (2022)
Assessment of differential gene expression by qPCR is heavily influenced by the choice of reference genes. Although numerous statistical approaches have been proposed to determine the best reference genes, they can give rise to conflicting results de
Externí odkaz:
https://doaj.org/article/e62e27386f794ee6b92abeaa7293f8bd
Autor:
Christopher Shaw, Youn-Bok Lee, Do-Young Lee, Claire Troakes, Emma L. Scotter, Jean-Marc Gallo, Boris Rogelj, Jacqueline C. Mitchell
Publikováno v:
Human Molecular Genetics
Transactive response DNA binding protein 43 (TDP-43) is an RNA processing protein central to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Nuclear TDP-43 mislocalizes in patients to the cytoplasm, where it
Autor:
Patricia Gomez‐Suaga, Gábor M. Mórotz, Andrea Markovinovic, Sandra M. Martín‐Guerrero, Elisavet Preza, Natalia Arias, Keith Mayl, Afra Aabdien, Vesela Gesheva, Agnes Nishimura, Ambra Annibali, Younbok Lee, Jacqueline C. Mitchell, Selina Wray, Christopher Shaw, Wendy Noble, Christopher C. J. Miller
Publikováno v:
Gomez Suaga, P, Morotz, G, Markovinovic, A, Martin Guerrero, S, Preza, E, Arias Del Castillo, N, Mayl, K, Aabdien, A, Gesheva, V, Nishimura, A, Annibali, A, Lee, Y, Mitchell, J, Wray, S, Shaw, C, Noble, W & Miller, C 2022, ' Disruption of ER-mitochondria tethering and signalling in C9orf72-associated amyotrophic lateral sclerosis and frontotemporal dementia ', AGING CELL, vol. 21, no. 2, e13549 . https://doi.org/10.1111/acel.13549
Hexanucleotide repeat expansions in C9orf72 are the most common cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mechanisms by which the expansions cause disease are not properly understood but a favoured r
Autor:
Jacqueline C Mitchell, Charbel Massaad, Julien Grenier, Aïda Padilla-Ferrer, Tatiana El Jalkh, Ivo Carre, Mrityunjoy Mondal, Shiden Solomon, Rasha Barakat, Prakroothi S Danthi, Venkat Krishnan Sundaram, Nirmal Kumar Sampathkumar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c7c30a9f65b9e56312e71bcdbc94873
https://doi.org/10.15252/rc.2022490056
https://doi.org/10.15252/rc.2022490056
Autor:
Jacqueline C. Mitchell, Shiden Solomon, Tatiana El Jalkh, Mrityunjoy Mondal, Nirmal Kumar Sampathkumar, Charbel Massaad, Aïda Padilla-Ferrer, Julien Grenier, Rasha Barakat, Venkat Krishnan Sundaram, Prakroothi S Danthi, Ivo Carre
Assessment of differential gene expression by qPCR is heavily influenced by the choice of reference genes. Although numerous statistical approaches have been proposed to determine the best reference genes, they can give rise to conflicting results de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82e69a6ccbe2d20ac487b8e01c4a98bb
https://doi.org/10.1101/2021.08.21.457202
https://doi.org/10.1101/2021.08.21.457202
Autor:
Sara Tacconelli, Elizabeth B. Glennon, Corinne Houart, Nikolas Nikolaou, Caroline Vance, Bradley N. Smith, Jacqueline C. Mitchell, Shaakir Salam
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
BackgroundAberrantly expressed fused in sarcoma (FUS) is a hallmark of FUS-related amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Wildtype FUS localises to synapses and interacts with mitochondrial proteins while mutations hav
Autor:
Jacqueline C. Mitchell, Han-Jou Chen
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 6004, p 6004 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
TDP-43 is an RNA-binding protein that has been robustly linked to the pathogenesis of a number of neurodegenerative disorders, including amyotrophic lateral sclerosis and frontotemporal dementia. While mutations in the TARDBP gene that codes for the