Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Adrian M Isaacs"'
Autor:
Dongwei Xu, Alec Vincent, Andrés González-Gutiérrez, Benjamin Aleyakpo, Sharifah Anoar, Ashling Giblin, Magda L Atilano, Mirjam Adams, Dunxin Shen, Annora Thoeng, Elli Tsintzas, Marie Maeland, Adrian M Isaacs, Jimena Sierralta, Teresa Niccoli
Publikováno v:
PLoS Genetics, Vol 19, Iss 9, p e1010893 (2023)
Brains are highly metabolically active organs, consuming 20% of a person's energy at resting state. A decline in glucose metabolism is a common feature across a number of neurodegenerative diseases. Another common feature is the progressive accumulat
Externí odkaz:
https://doaj.org/article/44d952c3a1cc4820a8897d05251cf851
Autor:
Magda L Atilano, Sebastian Grönke, Teresa Niccoli, Liam Kempthorne, Oliver Hahn, Javier Morón-Oset, Oliver Hendrich, Miranda Dyson, Mirjam Lisette Adams, Alexander Hull, Marie-Therese Salcher-Konrad, Amy Monaghan, Magda Bictash, Idoia Glaria, Adrian M Isaacs, Linda Partridge
Publikováno v:
eLife, Vol 10 (2021)
G4C2 repeat expansions within the C9orf72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The repeats undergo repeat-associated non-ATG translation to generate toxic dipeptide repeat pr
Externí odkaz:
https://doaj.org/article/55824973121a40c69b33db796ae2c8b6
Autor:
Roberto Simone, Rubika Balendra, Thomas G Moens, Elisavet Preza, Katherine M Wilson, Amanda Heslegrave, Nathan S Woodling, Teresa Niccoli, Javier Gilbert‐Jaramillo, Samir Abdelkarim, Emma L Clayton, Mica Clarke, Marie‐Therese Konrad, Andrew J Nicoll, Jamie S Mitchell, Andrea Calvo, Adriano Chio, Henry Houlden, James M Polke, Mohamed A Ismail, Chad E Stephens, Tam Vo, Abdelbasset A Farahat, W David Wilson, David W Boykin, Henrik Zetterberg, Linda Partridge, Selina Wray, Gary Parkinson, Stephen Neidle, Rickie Patani, Pietro Fratta, Adrian M Isaacs
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 1, Pp 22-31 (2018)
Abstract Intronic GGGGCC repeat expansions in C9orf72 are the most common known cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), which are characterised by degeneration of cortical and motor neurons, respectively. Repea
Externí odkaz:
https://doaj.org/article/1f8b61ee6cea4757929c90eeb5c2d015
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 7, Pp 853-855 (2017)
A hexanucleotide repeat expansion in the C9orf72 gene is a common genetic cause of ALS and FTD. The repeats are translated into five different dipeptide repeat proteins (DPRs). In this issue, Lehmer et al (2017) demonstrate that one of these DPRs, po
Externí odkaz:
https://doaj.org/article/b3b988c8104142edb72bd52afb5a17e9
Autor:
Elizabeth M.C. Fisher, Linda Greensmith, Andrea Malaspina, Pietro Fratta, Michael G. Hanna, Giampietro Schiavo, Adrian M. Isaacs, Richard W. Orrell, Thomas J. Cunningham, Abraham Acevedo Arozena
Publikováno v:
Molecular Neurodegeneration. 18
Amyotrophic lateral sclerosis is a complex disorder most of which is ‘sporadic’ of unknown origin but approximately 10% is familial, arising from single mutations in any of more than 30 genes. Thus, there are more than 30 familial ALS subtypes, w
Autor:
Adrian M. Isaacs, Katherine Bonnycastle, Stephanie Schorge, Emma L. Clayton, Michael A. Cousin
Publikováno v:
Journal of Neurochemistry. 160:412-425
Mutations in the ESCRT-III subunit CHMP2B cause frontotemporal dementia (FTD) and lead to impaired endolysosomal trafficking and lysosomal storage pathology in neurons. We investigated the effect of mutant CHMP2B on synaptic pathology, as ESCRT funct
Autor:
Rubika Balendra, Igor Ruiz de los Mozos, Idoia Glaria, Carmelo Milioto, Hana M Odeh, Katherine M Wilson, Agnieszka M Ule, Martina Hallegger, Laura Masino, Stephen Martin, Rickie Patani, James Shorter, Jernej Ule, Adrian M Isaacs
An intronic GGGGCC repeat expansion inC9orf72is a common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. The repeats are transcribed in both sense and antisense directions to generate distinct dipeptide repeat proteins, of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7884474e238fa34edd2e211aa5ecae20
https://doi.org/10.1101/2022.10.10.511318
https://doi.org/10.1101/2022.10.10.511318
Autor:
Ross McLeod, David Thompson, Elizabeth M. C. Fisher, Charlotte Tibbit, Michelle Simon, Robert H. Baloh, Asif Nakhuda, Thomas J. Cunningham, Remya R. Nair, Adrian M. Isaacs
Publikováno v:
Methods (San Diego, Calif.)
Graphical abstract
Highlights • Large GGGGCC repeat expansions within BAC vectors are highly unstable. • CRISPR-Cas9 screening of BAC vector clones to determine repeat length. • CRISPR-Cas9 cloning of GGGGCC repeat expansion regions into t
Highlights • Large GGGGCC repeat expansions within BAC vectors are highly unstable. • CRISPR-Cas9 screening of BAC vector clones to determine repeat length. • CRISPR-Cas9 cloning of GGGGCC repeat expansion regions into t
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-13 (2020)
Digital.CSIC. Repositorio Institucional del CSIC
instname
Acta Neuropathologica Communications
Digital.CSIC. Repositorio Institucional del CSIC
instname
Acta Neuropathologica Communications
A C9orf72 repeat expansion is the most common genetic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis. One of the suggested pathomechanisms is toxicity from dipeptide repeat proteins (DPRs), which are generated via unconventi
Autor:
Katherine M, Wilson, Eszter, Katona, Idoia, Glaria, Mireia, Carcolé, Imogen J, Swift, Aitana, Sogorb-Esteve, Carolin, Heller, Arabella, Bouzigues, Amanda J, Heslegrave, Ashvini, Keshavan, Kathryn, Knowles, Saurabh, Patil, Susovan, Mohapatra, Yuanjing, Liu, Jaya, Goyal, Raquel, Sanchez-Valle, Robert Jr, Laforce, Matthis, Synofzik, James B, Rowe, Elizabeth, Finger, Rik, Vandenberghe, Christopher R, Butler, Alexander, Gerhard, John C, Van Swieten, Harro, Seelaar, Barbara, Borroni, Daniela, Galimberti, Alexandre, de Mendonça, Mario, Masellis, M Carmela, Tartaglia, Markus, Otto, Caroline, Graff, Simon, Ducharme, Jonathan M, Schott, Andrea, Malaspina, Henrik, Zetterberg, Ramakrishna, Boyanapalli, Jonathan D, Rohrer, Adrian M, Isaacs, Miren, Zulaica
Publikováno v:
Journal of neurology, neurosurgery, and psychiatry. 93(7)
A GGGGCC repeat expansion in theWe used the single molecule array (Simoa) platform to develop an immunoassay for measuring poly(GP) dipeptide repeat proteins (DPRs) generated by theWe show the assay to be highly sensitive and robust, passing extensiv