Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Kurt J De Vos"'
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e67276 (2013)
Charcot-Marie-Tooth disease (CMT) represents a group of neurodegenerative disorders typically characterised by demyelination (CMT1) or distal axon degeneration (CMT2) of motor and sensory neurons. The majority of CMT2 cases are caused by mutations in
Externí odkaz:
https://doaj.org/article/ab40266d2dcc4698a9f62aba426eedbf
An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD
Autor:
Claudia S. Bauer, Rebecca N. Cohen, Francesca Sironi, Matthew R. Livesey, Thomas H. Gillingwater, J. Robin Highley, Daniel J. Fillingham, Ian Coldicott, Emma F. Smith, Yolanda B. Gibson, Christopher P. Webster, Andrew J. Grierson, Caterina Bendotti, Kurt J. De Vos
Publikováno v:
Bauer, C S, Cohen, R N, Sironi, F, Livesey, M R, Gillingwater, T H, Highley, J R, Fillingham, D J, Coldicott, I, Smith, E F, Gibson, Y B, Webster, C P, Grierson, A J, Bendotti, C & De Vos, K J 2022, ' An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD ', Acta Neuropathologica, vol. 144, pp. 437–464 .
Dysfunction and degeneration of synapses is a common feature of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). A GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene is the main genetic cause of ALS/FTD (C9ALS/FTD). The re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e62b958cdd3f8be1dbf86bcad7b19440
https://doi.org/10.1007/s00401-022-02470-z
https://doi.org/10.1007/s00401-022-02470-z
Autor:
Lydia M. Castelli, Ya-Hui Lin, Alvaro Sanchez-Martinez, Aytaç Gül, Kamallia Mohd Imran, Adrian Higginbottom, Santosh Kumar Upadhyay, Nóra M. Márkus, Raquel Rua Martins, Johnathan Cooper-Knock, Claire Montmasson, Rebecca Cohen, Amy Walton, Claudia S. Bauer, Kurt J. De Vos, Richard J. Mead, Mimoun Azzouz, Cyril Dominguez, Laura Ferraiuolo, Pamela J. Shaw, Alexander J. Whitworth, Guillaume M. Hautbergue
Publikováno v:
Science Translational Medicine. 15
Hexanucleotide repeat expansions in C9ORF72 are the most common genetic cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Studies have shown that the hexanucleotide expansions cause the noncanonical translation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7657c2ae126f1e7f0f199220e1a5cb36
https://doi.org/10.1126/scitranslmed.abo3823
https://doi.org/10.1126/scitranslmed.abo3823
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 10 (2017)
Protein homeostasis (proteostasis), the correct balance between production and degradation of proteins, is essential for the health and survival of cells. Proteostasis requires an intricate network of protein quality control pathways (the proteostasi
Externí odkaz:
https://doaj.org/article/2205843a95df493dae372e71c818f23e
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
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::2726f91c3cea074af843aac453bdca10
Autor:
Kurt J. De Vos, Marco Destro, Andrew J. Grierson, Raffaele Marroccella, Emma F. Smith, Victor Alfred, Darren Robinson, Guillaume M. Hautbergue, Luc Bousset, Laurent Brasseur, Allan C. Shaw, Ronald Melki, Stephen J. Ebbens, Christopher P. Webster, Laura Ferraiuolo, Christa G. Walther, Mimoun Azzouz, Lai Mei Wan, Paolo M. Marchi, Lara Marrone
Dipeptide repeat proteins (DPRs) are aggregation-prone polypeptides encoded by the pathogenic G4C2 repeat expansion in the C9orf72 gene, the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a6426a970417041b495e4e719d1d7e1f
https://doi.org/10.1101/2021.10.11.463891
https://doi.org/10.1101/2021.10.11.463891
Autor:
Paolo M Marchi, Lara Marrone, Laurent Brasseur, Audrey Coens, Christopher P Webster, Luc Bousset, Marco Destro, Emma F Smith, Christa G Walther, Victor Alfred, Raffaele Marroccella, Emily J Graves, Darren Robinson, Allan C Shaw, Lai Mei Wan, Andrew J Grierson, Stephen J Ebbens, Kurt J De Vos, Guillaume M Hautbergue, Laura Ferraiuolo, Ronald Melki, Mimoun Azzouz
Publikováno v:
Life Science Alliance
Life Science Alliance, 2022, 5 (9), pp.e202101276. ⟨10.26508/lsa.202101276⟩
Life Science Alliance, 2022, 5 (9), pp.e202101276. ⟨10.26508/lsa.202101276⟩
Dipeptide repeat (DPR) proteins are aggregation-prone polypeptides encoded by the pathogenic GGGGCC repeat expansion in the C9ORF72 gene, the most common genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia. In this study, we fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08821ad1db7017cafd7574b9a4fb502
https://doi.org/10.26508/lsa.202101276
https://doi.org/10.26508/lsa.202101276
Autor:
Waheba Elsayed, Shih-Chieh Chieh Chiang, Tommaso Iannitti, Mateusz Jurga, Mohamed K. Hassan, Ian Coldicott, Sherif F. El-Khamisy, Kurt J. De Vos, Adrian Higginbottom, Evangelia Karyka, Padraig J. Mulcahy, Vera Lukashchuk, Katherine E. Lewis, Jayanth S. Chandran, Mimoun Azzouz, Pamela J. Shaw, Callum Walker, Swagat Ray, Saul Herranz-Martin, Guillaume M. Hautbergue, Chunyan Liao, Ioannis Tsagakis
Publikováno v:
Nature neuroscience
A hexanucleotide repeat expansion represents the most common genetic cause of\ud amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, though the\ud mechanisms by which the expansion cause neurodegeneration are poorly understood. We\ud rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fb2bd1ec895b7cc772ca87b8587c4
http://europepmc.org/articles/PMC5578434
http://europepmc.org/articles/PMC5578434
Autor:
Clark D Russell, Helen M. Marriott, Kurt J. De Vos, Pamela J. Shaw, Christopher J. Hill, Elizabeth C. Prestwich, Clare Pridans, Timothy J. Mitchell, Katharin Balbirnie-Cumming, Jennifer L. Marshall, David H. Dockrell, Emily Fisk, Alison M. Condliffe, Mohammed Mohasin, Scott P. Allen, Per A. Bullough
Immunometabolism and regulation of mitochondrial reactive oxygen species (mROS) are critical determinants of the immune effector phenotype of differentiated macrophages. Mitochondrial function requires dynamic fission and fusion, but whether effector
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5a2607db88eaa6a0567324d3c2c89fe
https://doi.org/10.1101/722603
https://doi.org/10.1101/722603
Autor:
Kurt J. De Vos, Ruby Macdonald, Gunnar Bronstad, Laura Ferraiuolo, Jan O. Aasly, Aurelie Schwartzentruber, Mark O. Collins, Heather Mortiboys, Richard Lucas, Kavitha Chinnaiya, Claudia S. Bauer
Mutations in LRRK2 are the most common cause of dominantly inherited Parkinson’s disease (PD). A proportion of LRRK2 PD exhibits Lewy pathology with accumulations of α-synuclein and ubiquitin in intracellular aggregates that are indistinguishable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d190bbf674905dfdb6aeb2e0dadb5c4d
https://doi.org/10.1101/554881
https://doi.org/10.1101/554881