Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Rachel A Kline"'
Autor:
Rachel A Kline, Kevin A Kaifer, Erkan Y Osman, Francesco Carella, Ariana Tiberi, Jolill Ross, Giuseppa Pennetta, Christian L Lorson, Lyndsay M Murray
Publikováno v:
PLoS Genetics, Vol 13, Iss 3, p e1006680 (2017)
The term "motor neuron disease" encompasses a spectrum of disorders in which motor neurons are the primary pathological target. However, in both patients and animal models of these diseases, not all motor neurons are equally vulnerable, in that while
Externí odkaz:
https://doaj.org/article/d673597e1150452e92e8cc023c4e4a97
Autor:
Zsofia I. Laszlo, Nicole Hindley, Anna Sanchez Avila, Rachel A. Kline, Samantha L. Eaton, Douglas J. Lamont, Colin Smith, Tara L. Spires-Jones, Thomas M. Wishart, Christopher M. Henstridge
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-20 (2022)
Abstract Increasing evidence suggests synaptic dysfunction is a central and possibly triggering factor in Amyotrophic Lateral Sclerosis (ALS). Despite this, we still know very little about the molecular profile of an ALS synapse. To address this gap,
Externí odkaz:
https://doaj.org/article/a5dc3dda62ae45789b1d7df6f27a7cc3
Autor:
Sharon J. Brown, Rachel A. Kline, Silvia A. Synowsky, Sally L. Shirran, Ian Holt, Kelly A. Sillence, Peter Claus, Brunhilde Wirth, Thomas M. Wishart, Heidi R. Fuller
Publikováno v:
Cells, Vol 11, Iss 17, p 2624 (2022)
Most research to characterise the molecular consequences of spinal muscular atrophy (SMA) has focused on SMA I. Here, proteomic profiling of skin fibroblasts from severe (SMA I), intermediate (SMA II), and mild (SMA III) patients, alongside age-match
Externí odkaz:
https://doaj.org/article/3cd4a33860b94e2dbe9ab7ac17ec3748
Autor:
Rachel A. Kline, Lena Lößlein, Dominic Kurian, Judit Aguilar Martí, Samantha L. Eaton, Felipe A. Court, Thomas H. Gillingwater, Thomas M. Wishart
Publikováno v:
Cells, Vol 11, Iss 17, p 2653 (2022)
Recent advances in proteomic technologies now allow unparalleled assessment of the molecular composition of a wide range of sample types. However, the application of such technologies and techniques should not be undertaken lightly. Here, we describe
Externí odkaz:
https://doaj.org/article/bf309651417e499eb255c76a496cd0b7
Autor:
Laura H Comley, Rachel A Kline, Alison K Thomson, Victoria Woschitz, Eric Villalón Landeros, Erkan Y Osman, Christian L Lorson, Lyndsay M Murray
Publikováno v:
Human Molecular Genetics. 31:3107-3119
Spinal muscular atrophy (SMA) is a childhood motor neuron disease caused by anomalies in the SMN1 gene. Although therapeutics have been approved for the treatment of SMA, there is a therapeutic time window, after which efficacy is reduced. Hallmarks
Autor:
Felipe A. Court, Thomas M. Wishart, Waldo Cerpa, J César Cárdenas, Sebastián Bernales, Gonzalo Ureta, Hernán Huerta, Douglas J Lamont, Rachel A Kline, Samantha L Eaton, Somya Iqbal, Gabriel Quiroz, Matías Lira, Macarena S. Arrázola
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21bb5423093d534bb98a447468cb2e45
https://doi.org/10.15252/rc.2022284456
https://doi.org/10.15252/rc.2022284456
Autor:
Jonathan D. Cooper, Thomas M. Wishart, Maica Llavero Hurtado, Hemanth R. Nelvagal, Mark S. Sands, Samantha L. Eaton, Douglas J. Lamont, Rachel A. Kline
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-16 (2020)
Scientific Reports
Nelvagal, H R, Llavero Hurtado, M, Eaton, S, Kline, R, Lamont, D J, Sands, M S, Wishart, T & Cooper, J D 2020, ' Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease ', Scientific Reports . https://doi.org/10.1038/s41598-020-72075-7
Scientific Reports
Nelvagal, H R, Llavero Hurtado, M, Eaton, S, Kline, R, Lamont, D J, Sands, M S, Wishart, T & Cooper, J D 2020, ' Comparative proteomic profiling reveals mechanisms for early spinal cord vulnerability in CLN1 disease ', Scientific Reports . https://doi.org/10.1038/s41598-020-72075-7
CLN1 disease is a fatal inherited neurodegenerative lysosomal storage disease of early childhood, caused by mutations in the CLN1 gene, which encodes the enzyme Palmitoyl protein thioesterase-1 (PPT-1). We recently found significant spinal pathology
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
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