Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Guillaume M, Hautbergue"'
Autor:
Simeon R. Mihaylov, Lydia M. Castelli, Ya-Hui Lin, Aytac Gül, Nikita Soni, Christopher Hastings, Helen R. Flynn, Oana Păun, Mark J. Dickman, Ambrosius P. Snijders, Robert Goldstone, Oliver Bandmann, Tatyana A. Shelkovnikova, Heather Mortiboys, Sila K. Ultanir, Guillaume M. Hautbergue
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)
Abstract PGC-1α plays a central role in maintaining mitochondrial and energy metabolism homeostasis, linking external stimuli to transcriptional co-activation of genes involved in adaptive and age-related pathways. The carboxyl-terminus encodes a se
Externí odkaz:
https://doaj.org/article/d4c65c08085643d58fc9598614996598
Autor:
Scott P. Allen, Afnan Al Sultan, Elaine Kabucho Kibirige, Erin Tonkiss, Keaton J. Hamer, Lydia M. Castelli, Ya-Hui Lin, Sarah Roscoe, Nikolaos Stefanidis, Richard J. Mead, J. Robin Highley, Johnathan Cooper-Knock, Guillaume M. Hautbergue, Paul R. Heath, Janine Kirby, Pamela J. Shaw
Publikováno v:
Frontiers in Aging Neuroscience, Vol 15 (2023)
A p.Y374X truncation in TARDBP was recently shown to reduce expression of TDP43 in fibroblasts isolated from ALS cases. In this follow up study focused on assessing the downstream phenotypic consequences of loss of TDP43 in the context of the truncat
Externí odkaz:
https://doaj.org/article/ca2ad4e34a5b4061a9d5da2449950735
Autor:
Claudia S. Bauer, Christopher P. Webster, Allan C. Shaw, Jannigje R. Kok, Lydia M. Castelli, Ya-Hui Lin, Emma F. Smith, Francisco Illanes-Álvarez, Adrian Higginbottom, Pamela J. Shaw, Mimoun Azzouz, Laura Ferraiuolo, Guillaume M. Hautbergue, Andrew J. Grierson, Kurt J. De Vos
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Disruption to protein homeostasis caused by lysosomal dysfunction and associated impairment of autophagy is a prominent pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). The most common genetic cause of ALS/FTD is a G4
Externí odkaz:
https://doaj.org/article/a7f7ea91bf69440699e3334d2a8e3cbe
Autor:
Lydia M. Castelli, Luisa Cutillo, Cleide Dos Santos Souza, Alvaro Sanchez-Martinez, Ilaria Granata, Ya-Hui Lin, Monika A. Myszczynska, Paul R. Heath, Matthew R. Livesey, Ke Ning, Mimoun Azzouz, Pamela J. Shaw, Mario R. Guarracino, Alexander J. Whitworth, Laura Ferraiuolo, Marta Milo, Guillaume M. Hautbergue
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-24 (2021)
Abstract Background Loss of motor neurons in amyotrophic lateral sclerosis (ALS) leads to progressive paralysis and death. Dysregulation of thousands of RNA molecules with roles in multiple cellular pathways hinders the identification of ALS-causing
Externí odkaz:
https://doaj.org/article/d1a033da7da847f699478c811b28f10b
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Short repeated sequences of 3−6 nucleotides are causing a growing number of over 50 microsatellite expansion disorders, which mainly present with neurodegenerative features. Although considered rare diseases in relation to the relatively low number
Externí odkaz:
https://doaj.org/article/3d3e8c2d6a29401e9c075e7c7768ab06
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons. As with the majority of neurodegenerative diseases, the pathological hallmarks of ALS inv
Externí odkaz:
https://doaj.org/article/b8ec5ea2abf04bb9bbcbbccd0d4ed7de
Autor:
André Varcianna, Monika A. Myszczynska, Lydia M. Castelli, Brendan O'Neill, Yeseul Kim, Jordan Talbot, Sophie Nyberg, Immanuelle Nyamali, Paul R. Heath, Matthew J. Stopford, Guillaume M. Hautbergue, Laura Ferraiuolo
Publikováno v:
EBioMedicine, Vol 40, Iss , Pp 626-635 (2019)
Background: Astrocytes regulate neuronal function, synaptic formation and maintenance partly through secreted extracellular vesicles (EVs). In amyotrophic lateral sclerosis (ALS) astrocytes display a toxic phenotype that contributes to motor neuron (
Externí odkaz:
https://doaj.org/article/05ea110dca0041249eb8a8d9d78a3cba
Autor:
Matthew P. Shaw, Adrian Higginbottom, Alexander McGown, Lydia M. Castelli, Evlyn James, Guillaume M. Hautbergue, Pamela J. Shaw, Tennore M. Ramesh
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)
Abstract A hexanucleotide repeat expansion (HRE) within the chromosome 9 open reading frame 72 (C9orf72) gene is the most prevalent cause of amyotrophic lateral sclerosis/fronto-temporal dementia (ALS/FTD). Current evidence suggests HREs induce neuro
Externí odkaz:
https://doaj.org/article/869e058a2e124ab5881e47bd51e2976f
Autor:
Tommaso Iannitti, Joseph M. Scarrott, Shibi Likhite, Ian R.P. Coldicott, Katherine E. Lewis, Paul R. Heath, Adrian Higginbottom, Monika A. Myszczynska, Marta Milo, Guillaume M. Hautbergue, Kathrin Meyer, Brian K. Kaspar, Laura Ferraiuolo, Pamela J. Shaw, Mimoun Azzouz
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 12, Iss , Pp 75-88 (2018)
Of familial amyotrophic lateral sclerosis (fALS) cases, 20% are caused by mutations in the gene encoding human cytosolic Cu/Zn superoxide dismutase (hSOD1). Efficient translation of the therapeutic potential of RNAi for the treatment of SOD1-ALS pati
Externí odkaz:
https://doaj.org/article/b30506436b9849bf842271b7ed602925
Autor:
Guillaume M. Hautbergue, Lydia M. Castelli, Laura Ferraiuolo, Alvaro Sanchez-Martinez, Johnathan Cooper-Knock, Adrian Higginbottom, Ya-Hui Lin, Claudia S. Bauer, Jennifer E. Dodd, Monika A. Myszczynska, Sarah M. Alam, Pierre Garneret, Jayanth S. Chandran, Evangelia Karyka, Matthew J. Stopford, Emma F. Smith, Janine Kirby, Kathrin Meyer, Brian K. Kaspar, Adrian M. Isaacs, Sherif F. El-Khamisy, Kurt J. De Vos, Ke Ning, Mimoun Azzouz, Alexander J. Whitworth, Pamela J. Shaw
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-18 (2017)
The RNA for ALS- and frontotemporal dementia-associated C9ORF72 gene is exported from nucleus via an unknown mechanism. This study shows that reduction of nuclear export adaptor SRSF1 can alleviate neuronal cell death and nuclear export of C9ORF72 in
Externí odkaz:
https://doaj.org/article/26d01605fb7344faaa67f88fe2c80e8f