Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Anna A. L. Motyl"'
Autor:
Penelope J Boyd, Wen-Yo Tu, Hannah K Shorrock, Ewout J N Groen, Roderick N Carter, Rachael A Powis, Sophie R Thomson, Derek Thomson, Laura C Graham, Anna A L Motyl, Thomas M Wishart, J Robin Highley, Nicholas M Morton, Thomas Becker, Catherina G Becker, Paul R Heath, Thomas H Gillingwater
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006744 (2017)
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA
Externí odkaz:
https://doaj.org/article/6a1994812232441a91ce50a3acc16685
Autor:
Thomas H. Gillingwater, Helena Chaytow, Yu-Ting Huang, Leire M. Ledahawsky, Anna A L Motyl, Thomas M. Wishart, Samantha L. Eaton, Kiterie M. E. Faller, Douglas J. Lamont, Ewout J N Groen, Rachel A. Kline
Publikováno v:
Human Molecular Genetics
Motyl, A A L, Faller, K, Groen, E J N, Kline, R, Eaton, S, Ledahawsky, L, Chaytow, H, Lamont, D J, Wishart, T, Huang, Y & Gillingwater, T 2020, ' Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy ', Human Molecular Genetics, vol. 29, no. 16, pp. 2674-2683 . https://doi.org/10.1093/hmg/ddaa146
Motyl, A A L, Faller, K, Groen, E J N, Kline, R, Eaton, S, Ledahawsky, L, Chaytow, H, Lamont, D J, Wishart, T, Huang, Y & Gillingwater, T 2020, ' Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy ', Human Molecular Genetics, vol. 29, no. 16, pp. 2674-2683 . https://doi.org/10.1093/hmg/ddaa146
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by mutations in survival motor neuron 1 (SMN1). SMN-restoring therapies have recently emerged; however, preclinical and clinical studies revealed a limited therapeutic time window and sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254e0fb675dafec618503b1ba725a930
http://europepmc.org/articles/PMC7530529
http://europepmc.org/articles/PMC7530529
Autor:
null Leire M. Ledahawsky, null Maria Eirini Terzenidou, null Ruairidh Edwards, null Rachel A. Kline, null Laura C. Graham, null Samantha L. Eaton, null Dinja van der Hoorn, null Helena Chaytow, null Yu‐Ting Huang, null Ewout J.N. Groen, null Anna A. L. Motyl, null Douglas J. Lamont, null Kostas Tokatlidis, null Thomas M. Wishart, null Thomas H. Gillingwater
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03143649c9c435da9090c5a119d02f6c
https://doi.org/10.1111/febs.16377/v2/response1
https://doi.org/10.1111/febs.16377/v2/response1
Autor:
Leire M. Ledahawsky, Maria Eirini Terzenidou, Ruairidh Edwards, Rachel A. Kline, Laura C. Graham, Samantha L. Eaton, Dinja van der Hoorn, Helena Chaytow, Yu‐Ting Huang, Ewout J. N. Groen, Anna A. L. Motyl, Douglas J. Lamont, Kostas Tokatlidis, Thomas M. Wishart, Thomas H. Gillingwater
Publikováno v:
The FEBS journal. 289(13)
Synapses are a primary pathological target in neurodegenerative diseases. Identifying therapeutic targets at the synapse could delay progression of numerous conditions. The mitochondrial protein SFXN3 is a neuronally enriched protein expressed in syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22fe7f223cfbdb8a1aeaca41cbf7ba44
https://pubmed.ncbi.nlm.nih.gov/35092170
https://pubmed.ncbi.nlm.nih.gov/35092170
Autor:
J. Robin Highley, Paul R. Heath, Nicholas M. Morton, Thomas Becker, Ewout J N Groen, Derek Thomson, Thomas M. Wishart, Rachael A. Powis, Penelope J Boyd, Catherina G. Becker, Roderick N. Carter, Wen-Yo Tu, Thomas H. Gillingwater, Anna A L Motyl, Sophie R. Thomson, Hannah K. Shorrock, Laura C. Graham
Publikováno v:
PLoS Genetics, Vol 13, Iss 4, p e1006744 (2017)
Boyd, P J, Tu, W-Y, Shorrock, H K, Groen, E J N, Carter, R N, Powis, R A, Thomson, S R, Thomson, D, Graham, L C, Motyl, A A L, Wishart, T M, Highley, J R, Morton, N M, Becker, T, Becker, C G, Heath, P R & Gillingwater, T H 2017, ' Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy ', PLoS Genetics, vol. 13, no. 4, e1006744 . https://doi.org/10.1371/journal.pgen.1006744
PLoS Genetics
Boyd, P J, Tu, W-Y, Shorrock, H K, Groen, E J N, Carter, R N, Powis, R A, Thomson, S R, Thomson, D, Graham, L C, Motyl, A A L, Wishart, T M, Highley, J R, Morton, N M, Becker, T, Becker, C G, Heath, P R & Gillingwater, T H 2017, ' Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy ', PLoS Genetics, vol. 13, no. 4, e1006744 . https://doi.org/10.1371/journal.pgen.1006744
PLoS Genetics
Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea50dbb34fd8d58066abee13b6d717f
https://doi.org/10.1371/journal.pgen.1006744
https://doi.org/10.1371/journal.pgen.1006744